| Cystic fibrosis patients from the black sea region: The 1677delTA mutation |
|
|
|
|
|
|
|
|
|
| A microtiter plate assay for determining apolipoprotein E genotype and discovery of a rare allele |
|
|
|
|
|
|
|
|
|
| A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals |
|
|
|
|
|
|
|
|
|
| A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene |
|
|
|
|
|
|
|
|
|
| A new frameshift mutation, insertion of ATCT, at codon 48 in the β-globin gene causes β-thalassemia in an Indian proband |
|
|
|
|
|
|
|
|
|
| Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis |
|
|
|
|
|
|
|
|
|
| The Ashkenazi Jewish Fanconi anemia mutation: Incidence among patients and carrier frequency in the at-risk population |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish |
| APC andp53 mutations in de novo colorectal adenocarcinomas |
|
|
|
|
|
|
|
|
|
| Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII |
|
|
|
|
|
|
|
|
|
| Mutations in Steroid 21-Hydroxylase (CYP21) |
|
|
|
|
|
|
|
|
|
| Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency |
|
|
|
|
|
|
|
|
|
| Announcement |
|
|
|
|
|
|
|
|
|
| Two NF1 mutations: Frameshift in the GAP-related domain, and loss of two codons toward the 3′ end of the gene |
|
|
|
|
|
|
|
|
|
| New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines |
|
|
|
|
|
|
|
|
|
| A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5 |
|
|
|
|
|
|
|
|
|
| A single-base deletion mutation in a Turkish patient with fucosidosis |
|
|
|
|
|
|
|
|
|
| Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa |
|
|
|
|
|
|
|
|
|
| Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucocerebrosidase gene |
|
|
|
|
|
|
|
|
|
| A rapid restriction site screening method for the Pro207→Leu mutation in the lipoprotein lipase gene |
|
|
|
|
|
|
|
|
|
| Masthead |
|
|
|
|
|
|
|
|
|
| Masthead |
|
|
|
|
|
|
|
|
|
| Enzymatic amplification of synthetic oligodeoxyribonucleotides: Implications for triplet repeat expansions in the human genome |
|
|
|
|
|
|
|
|
|
| A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries |
|
|
|
|
|
|
✓ |
|
different ancestries |
| Reverse dot blot probes for the screening of β-thalassernia mutationsin Asians and American blacks |
|
|
|
|
|
|
✓ |
|
Asians and American blacks |
| Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency |
|
|
|
|
|
|
|
|
|
| Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis |
|
|
|
|
|
|
|
|
|
| Sequence of the —530 region of the β-globin gene of sickle cell anemia patients with the Arabian haplotype |
|
|
|
|
|
|
|
|
|
| Infrequent mutation of theWT1 gene in 77 Wilms' tumors |
|
|
|
|
|
|
|
|
|
| A single base mutation in the type II procollagen gene (COL2A1) that converts glycine α1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia |
|
|
|
|
|
|
|
|
|
| A rapid and simple DNA fingerprinting method using RLFP and SSCP analysis of the hypervariable noncoding region of human mitochondrial DNA |
|
|
|
|
|
|
|
|
|
| Nonsense mutation in the homeobox region of the aniridia gene |
|
|
|
|
|
|
|
|
|
| Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency |
|
|
|
|
|
|
|
|
|
| A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH) |
|
|
|
|
|
|
|
|
|
| Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations |
|
|
|
|
|
|
|
|
|
| (ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations |
|
|
|
|
|
|
|
|
|
| A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis |
|
|
|
|
|
|
|
|
|
| Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency |
|
|
|
|
|
|
|
|
|
| Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene |
|
|
|
|
|
|
|
|
|
| Mutations of the iduronate-2-sulfatase (IDS) gene in patients with hunter syndrome (mucopolysaccharidosis II) |
|
|
|
|
|
|
|
|
|
| A tandem CC → TT transition in the p53 gene of a breast cancer |
|
|
|
|
|
|
|
|
|
| A novel mutation (G1249R) in exon 20 of the CFTR gene |
|
|
|
|
|
|
|
|
|
| Molecular genetics of metachromatic leukodystrophy |
|
|
|
|
|
|
|
|
|
| Mutations causing gaucher disease |
|
|
|
|
|
|
|
|
|
| Exhaustive analysis of the P53 gene coding sequence by denaturing gradient gel electrophoresis: Application to the detection of point mutations in acute leukemias |
|
|
|
|
|
|
|
|
|
| Identification of a point mutation and germinal mosaicism in a duchenne muscular dystrophy family |
|
|
|
|
|
|
|
|
|
| Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1α subunit |
|
|
|
|
|
|
|
|
|
| Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques |
|
|
|
|
|
|
|
|
|
| A double-variant transthyretin allele (SER 6, ILE 33) in the Israeli patient “SKO” with familial amyloidotic polyneuropathy |
|
|
|
|
|
|
|
|
|
| The ornithine transcarbamylase gene: New “Private” mutations in four patients and study of a polymorphism |
|
|
|
|
|
|
|
|
|
| Scanning method to establish the molecular basis of protein C deficiencies |
|
|
|
|
|
|
|
|
|
| High throughput and economical mutation detection and RFLP analysis using a minimethod for DNA preparation from whole blood and acrylamide gel electrophoresis |
|
|
|
|
|
|
|
|
|
| North Eurasian origin of the myotonic dystrophy mutation |
|
|
|
|
|
|
|
|
|
| Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia |
|
|
|
|
|
|
|
|
|
| Molecular characterization of a DDEI melting polymorphism at the angiotensin I-converting enzyme (ACE) locus |
|
|
|
|
|
|
|
|
|
| Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy |
|
|
|
|
|
|
|
|
|
| Genetic basis of inherited peripheral neuropathies |
|
|
|
|
|
|
|
|
|
| Detection of point mutations by solid-phase methods |
|
|
|
|
|
|
|
|
|
| Transcriptional regulation of gene expression: Mechanisms and pathophysiology |
|
|
|
|
|
|
|
|
|
| Description and functional implications of a novel mutation in the sex-determining gene SRY |
|
|
|
|
|
|
|
|
|
| A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness |
|
|
|
|
|
|
|
|
|
| Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations |
|
|
|
|
|
|
|
|
|
| A novel β-thalassemia mutation: Frameshift at codon 59 detected in an Italian carrier |
|
|
|
|
|
|
✓ |
|
Italian |
| Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa |
|
|
|
|
|
|
|
|
|
| Two coding change mutations in theHIS22 allele characterize the salivary histatin 3-2 protein variant |
|
|
|
|
|
|
|
|
|
| Seven new mutations in the human ornithine transcarbamylase gene |
|
|
|
|
|
|
|
|
|
| An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease) |
|
|
|
|
|
|
|
|
|
| Population variation of common cystic fibrosis mutations |
|
|
|
|
|
|
|
|
|
| Metachromatic leukodystrophy in the Navajo Indian population: A splice site mutation in intron 4 of the arylsulfatase a gene |
|
|
|
|
|
|
✓ |
|
Navajo Indian population |
| Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion |
|
|
|
|
|
|
|
|
|
| Autosomal dominant spondylarthropathy due to a type II procollagen gene(COL2A1) point mutation |
|
|
|
|
|
|
|
|
|
| Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families |
|
|
|
|
|
|
|
|
|
| Linkage disequilibrium across the fibrinogen locus as shown by five genetic polymorphisms, G/A−455 (HaeIII), C/T−148 (HindIII/AluI), T/G+1689 (AvaII), andBclI (β-fibrinogen) andTaqI (α-fibrinogen), an |
|
|
|
|
|
|
|
|
|
| Molecular basis of fabry disease: Mutations and polymorphisms in the human α-galactosidase A gene |
|
|
|
|
|
|
|
|
|
| Does cancer kill the individual and save the species? |
|
|
|
|
|
|
|
|
|
| Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14) |
|
|
|
|
|
|
|
|
|
| A novel deletion in exon 15 of the adenomatous polyposis coli gene in an Italian kindred |
|
|
|
|
|
|
✓ |
|
Italian kindred |
| A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis |
|
|
|
|
|
|
|
|
|
| Phenylketonuria in China: Identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene |
|
|
|
|
|
|
|
|
|
| A cystic fibrosis patient with ΔF508, G542X and a deletion at the D7S8 locus |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Masthead |
|
|
|
|
|
|
|
|
|
| Detecting prion protein gene mutations by denaturing gradient gel electrophoresis |
|
|
|
|
|
|
|
|
|
| A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction |
|
|
|
|
|
|
|
|
|
| Three novel β-hexosaminidase a mutations in obligate carriers of Tay-Sachs disease |
|
|
|
|
|
|
|
|
|
| Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations |
|
|
|
|
|
|
|
|
|
| Masthead |
|
|
|
|
|
|
|
|
|
| Screening for mutations in the exon 26 of the apolipoprotein B gene in hypercholesterolemic finnish families by the single-strand conformation polymorphism method |
|
|
|
|
|
|
✓ |
|
finnish families |
| A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1) |
|
|
|
|
|
|
|
|
|
| Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene |
|
|
|
|
|
|
|
|
|
| Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP) |
|
|
|
|
|
|
|
|
|
| FH-Sydney 1 and 2: Two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation |
|
|
|
|
|
|
|
|
|
| A robotics-assisted procedure for large scale cystic fibrosis mutation analysis |
|
|
|
|
|
|
|
|
|
| Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease) |
|
|
|
|
|
|
|
|
|
| DNA mutational analysis of type 1 and type 3 gaucher patients: How well do mutations predict phenotype? |
|
|
|
|
|
|
|
|
|
| Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma |
|
|
|
|
|
|
|
|
|
| Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent |
|
|
|
|
|
|
|
|
Southern German Descent |
| Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene |
|
|
|
|
|
|
|
|
|
| A novel δº-Thalassemia mutation: TGG→TAG (TRP→STOP) at codon 37 |
|
|
|
|
|
|
|
|
|
| C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome |
|
|
|
|
|
|
|
|
|
| A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene |
|
|
|
|
|
|
|
|
|
| Masthead |
|
|
|
|
|
|
|
|
|
| Mutation detection by denaturing gradient gel electrophoresis (DGGE) |
|
|
|
|
|
|
|
|
|
| Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate |
|
|
|
|
|
|
|
|
|
| Identification of rare and novel mutations in the CFTR genes of CF patients in Southern England |
|
|
|
|
|
|
|
|
|
| A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a Southern French patient |
|
|
|
|
|
|
|
|
|
| Editorial |
|
|
|
|
|
|
|
|
|
| Mutations in PAX3 associated with waardenburg syndrome type I |
|
|
|
|
|
|
|
|
|
| Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy |
|
|
|
|
|
|
|
|
|
| Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing |
|
|
|
|
|
|
|
|
|
| Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population |
|
|
|
|
|
|
✓ |
|
black population |
| Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type I |
|
|
|
|
|
|
|
|
|
| Loss of heterozygosity on chromosome 5 in sporadic ovarian carcinoma is a late event and is not associated with mutations in APC at 5q21-22 |
|
|
|
|
|
|
|
|
|
| Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G |
|
|
|
|
|
|
|
|
|
| Nonisotopic detection of mutations using a modified single-strand conformation polymorphism analysis |
|
|
|
|
|
|
|
|
|
| Masthead |
|
|
|
|
|
|
|
|
|
| Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: Frequent mutation allows screening and early diagnosis |
|
|
|
|
|
|
|
|
|
| Complex arylsulfatase A alleles causing metachromatic leukodystrophy |
|
|
|
|
|
|
|
|
|
| Rapid and noninvasive screening of patients with mitochondrial myopathy |
|
|
|
|
|
|
|
|
|
| Genome scanning detects genetic alterations in human ovarian carcinoma |
|
|
|
|
|
|
|
|
|
| Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411 |
|
|
|
|
|
|
✓ |
|
of Turkish origin |
| Discussion on mutation nomenclature |
|
|
|
|
|
|
|
|
|
| Deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis |
|
|
|
|
|
|
|
|
|
| Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes |
|
|
|
|
|
|
|
|
|
| Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 +1 G→A |
|
|
|
|
|
|
|
|
|
| Masthead |
|
|
|
|
|
|
|
|
|
| Mutation analysis of Jewish hunter patients in Israel |
|
|
|
|
|
|
|
|
|
| Marked zinc activation of ester hydrolysis by a mutation, 67-His (CAT) to Arg (CGT), in the active site of human carbonic anhydrase I |
|
|
|
|
|
|
|
|
|
| Phenylketonuria in Southern Poland: A new splice mutation in intron 9 at the PAH locus |
|
|
|
|
|
|
|
|
|
| Masthead |
|
|
|
|
|
|
|
|
|
| Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III |
|
|
|
|
|
|
|
|
|
| Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels |
|
|
|
|
|
|
|
|
|
| Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska genetic semen bank |
|
|
|
|
|
|
|
|
|