Human Mutation - 1995

140 articles | Last updated: 2025-12-03 14:12:57

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Article Title	Cauc.		White		Euro.		Other		Phrases Used
Article Title	T	A	T	A	T	A	T	A	Phrases Used
A de novo duplication in the low density lipoprotein receptor gene
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype
Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation
Absence of mutations in the apolipoprotein E (APOE) gene of patients with Alzheimer disease
Concentration of mutations causing schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency
Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV
Homozygous intragenic deletion in the WT1 gene in a sporadic Wilms' tumour associated with high levels of expression of a truncated transcript
Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis
Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing
Mutations in the Norrie disease gene
Gaucher disease in Spanish patients: Analysis of eight mutations
Somatic mutations in VNTR-Locus D1S7 in human colorectal carcinomas are associated with microsatellite instability
A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory
Masthead
Detection and genetic analysis of β-thalassemia mutations by competitive oligopriming
Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene
Mutations in the estrogen receptor gene
Allele-specific competitive blocker PCR: A one-step method with applicability to pool screening
High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients
A nonsense mutation in two German patients with fucosidosis							✓		German
New point mutation (R301X) of the α-galactosidase a gene causing fabry disease
Masthead
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation
Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity
Novel seventeen basepair deletion in exon 3 of the β-globin gene
Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients							✓		Japanese
Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications
Twenty-five novel mutations of the factor IX gene in haemophilia B
Mutations of butyrylcholinesterase gene in a family with hypocholinesterasemia
Two new mutations in the acid sphingomyelinase gene causing type a Niemann-Pick disease: N389T and R441X
Apolipoprotein A-IV polymorphism in the Hungarian population: Gene frequencies, effect on lipid levels, and sequence of two new variants							✓		Hungarian population
Mitochondrial acetoacetyl-coenzyme a thiolase gene: A Novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β-ketothiolase deficiency	✓
Molecular basis of β-ketothiolase deficiency: Mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme a thiolase gene
Transthyretin mutations in health and disease
Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: Identification of three novel alleles
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients
Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5′ splice site
A Single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations
Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease							✓		Arab
Mutations and polymorphisms in the human ornithine transcarbamylase gene: Mutation update addendum
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene
Mutation heterogeneity of cystic fibrosis in France: Screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide
Molecular characterization of galactosemia (Type 1)mutations in Japanese
Three novel aniridia mutations in the human PAX6 gene
Molecular genetics of the glycophorin gene family, the antigens for MNSs blood groups: Multiple gene rearrangements and modulation of splice site usage result in extensive diversification
Molecular basis of hereditary fructose intolerance: Mutations and polymorphisms in the human aldolase B gene
Allele-specific associated polymorphism analysis: Novel modification of SSCP for mutation detection in heterozygous alleles using the paradigm of resistance to thyroid hormone
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1α deficiency
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technology
Mutations of the iduronate-2-sulfatase gene in 12 Polish. Patients with mucopolysaccharidosis type II (Hunter syndrome)
Donor splice site mutation in intron 5 of theHEXA gene in a Turkish infant with Tay-Sachs disease							✓		Turkish
Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1)
Spectrum of β-thalassemia mutations in the Gaza area
Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B
Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult
Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)	✓
Rapid restriction fragment analysis for screening four point mutations of the Low-density lipoprotein receptor gene in French Canadians							✓		French Canadians
A 931 + 2T → C transition in one COL1A2 allele causes exon 16 skipping in PROα2(I) mRNA and produces moderately severe OI
Novel missense mutation S108F in exon 4 of the CFTR gene
A frameshift mutation in codon 10 of the β-globin gene
Analysis of mutational changes at the HLA locus in single human sperm
Molecular etiology of factor VIII deficiency in hemophilia A
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population
Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection
Masthead
Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia
Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations
Optimisation and properties of a UHG for genotyping of hemoglobins S and C
Novel frameshift mutation in exon 4 of CFTR gene
Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia
Masthead
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients
Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease
Molecular basis of dihydropteridine reductase deficiency
Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia
Analysis of β-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSINT 5 (G-C) mutation
Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(−) hereditary elliptocytosis
Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): A further example of clinical heterogeneity in HPRT deficiencies
Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease
Screening for mutations in factor VIII gene using the single-strand conformation polymorphism
Mutations in muscle phosphofructokinase gene
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis
Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism
Four novel mutations underlying mild or intermediate forms of α-L-iduronidase deficiency (MPS IS and MPS IH/S)
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1
Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites
Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3)
Identification of a one-basepair deletion in exon 6 of the dystrophin gene
An Alul− polymorphism in theHEXA gene is common in Ashkenazi and Sephardic Jews, Israeli Arabs, and French Canadians of Quebec and Northern New England							✓		Ashkenazi and Sephardic Jews, Israeli Arabs, and French Canadians of Quebec and Northern New England
Masthead
Mutational analysis of patients with X-linked adrenoleukodystrophy
Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV
Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction
Mutation Analysis of phenylketonuria in South and Central Portugal: Prevalence of V388M mutation
Mutations Ivs4nt1, 47delCT, and G148S identified in the phenylalanine hydroxylase gene by RT-PCR of illegitimate transcripts and chemical cleavage of mismatch
Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia							✓		Northern Irish
Missense mutation (Arg121Trp) in the norrie disease gene associated with X-linked exudative vitreoretinopathy
A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset sandhoff disease
Two intronic mutations in the adrenoleukodystrophy gene
A novel mutation in the CFTR gene: I506T in exon 10
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
Efficient strategy for the detection of mutations in acrogeric Ehlers-danlos syndrome type IV
A 12-bp deletion ( 7818del12 ) in the c-kit protooncogene in a large Italian kindred with piebaldism
Masthead
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred
Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients
A splicing mutation (1898 + 1G→T) in the CFTR gene causing cystic fibrosis
Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation							✓		French Canadian
PEG-ADA: An alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency
Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews							✓		Habbanite Jews
Multiplex PCR analysis and genotype-phenotype correlations of frequentAPC mutations
A novel mutation at the invariant acceptor splice site of intron 9 in theHEXA gene [IVS9-1 G→T] detected by a PCR-based diagnostic test
A novel G1006A substitution in the α2(I) chain of type I collagen produces osteogenesis imperfecta type III
Identification of three different α-thalassemic haplotypes: —α3.7, (— —)MED and αHph α in the same Algerian family							✓		Algerian
Homozygous tandem duplication within the gene encoding the β-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa
Two novel β-thalassemia alleles: Poly A signal (AATAAA→AAAA) and −92 C→T
Masthead
African, Native American, and European mitochondrial DNAs in Cubans from Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba					✓		✓		European mitochondrial DNAs; African, Native American
Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT →TAG) at Tyr-40 in exon 2, (Y40X)							✓		Japanese
A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient
Where phenotype does not match genotype
Haplotype analysis in gelsoiin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan
Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia
Relatively high prevalence of the CFTR mutations, G85E and 1154insTC
Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation
Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain
Identification of seven novel mutations associated with metachromatic leukodystrophy
Identification of two novel mutations in the cystic fibrosis gene: 1898 + 3A→C and 2711delT
Identification of a novel Ala797Thr mutation in exon 21 of the β-myosin heavy chain gene in hypertrophic cardiomyopathy
Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells
Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease)	✓
Masthead
Applications of heteroduplex analysis for mutation detection in disease genes
Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories
French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism
Methods for rapid detection of a recurrent nonsense mutation and documentation of phenotypic features in neurofibromatosis type 1 patients