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Human Mutation - 1993

100 articles | Last updated: 2025-12-03 14:12:57
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Hunter syndrome: Gene deletions and rearrangements
Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques
G6PD “campinas:” A deficient enzyme with a mutation at the far 3′ end of the gene
Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA
Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation ✓ European ancestral mutation
The spectrum of β-thalassemia mutations in Azerbaijan
Masthead
Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene
Mutations and polymorphisms in the human ornithine transcarbamylase gene
A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg
Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification
A new δ-chain variant hemoglobin A2-puglia or α2δ2 26 Glu→Asp (B8), detected by DNA analysis in a family of Southern Italian origin ✓ Southern Italian origin
Molecular Diagnostics: Past, present, and future
Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B
Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: Their incidence and clinical features of defined genotypes
Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene
Masthead
A G to C transversion in codon 258 of the α-subunit of β-hexosaminidase a in an infant Tay-Sachs disease patient
Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center
Detection of more than 94% cystic fibrosis mutations in a sample of belgian population and identification of four novel mutations
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I
Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX
Molecular studies of mitochondrial acetoacetyl-coenzyme a thiolase deficiency in the two original families
A molecular approach to estimating the human deleterious mutation rate
Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene
No C1840 to T mutation in RYR1 in malignant hyperthermia
Base substitutions in the human dystrophin gene: Detection by using the single-strand conformation polymorphism (SSCP) technique
Mutations of theAPC adenomatous polyposis coli) gene
Simple, rapid, and accurate determination of deletion mutations by automated dna sequencing of heteroduplex fragments of the adenomatous polyposis coli (APC) gene generated by PCR amplification
Identification of mutations in Danish choroideremia families
Molecular characterization of β-thalassemia in Egyptians
A deletion/insertion mutation in theIDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaeeharidosis IH)
Detection of K-ras mutation in sputum by mutant-allele-specific amplification (MASA)
Sporadic alleles, including a novel mutation, characterize β-thalassemia in ashkenazi jews ✓ Ashkenazi Jews
A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa
Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II
Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE)
Infidelity in the structure of ectopic transcripts: A novel exon in lymphocyte dystrophin transcripts
A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta
How sensitive is PCR-SSCP?
Detection of sequence variations in the human insulin-receptor gene by parallel denaturing gradient gel electrophoresis
The first genetic marker detected in the promoter region of the thyroid peroxidase gene by single-strand conformational polymorphism analysis
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII
Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome
Eight novel polymorphisms in the dystrophin gene of african-americans: The rate of polymorphism is high ✓ african-americans
Temperature sensitivity of aberrant RNA splicing with a mutation in theG+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV
A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex
Deletions with inversions: Report of a mutation and review of the literature
A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population ✓ Polish population
Second International Symposium on the Marfan Syndrome, November 7-9, 1992, San Francisco, CA
Advances in DNA sequencing technology
Fabry disease: Detection of gene rearrangements in the human α-Galactosidase A Gene by Multiplex PCR Amplification
Detection of polymorphisms using thermal cycling with a single oligonucleotide on a DNA sequencing gel
A method to isolate DNA from small archival tissue samples for p53 gene analysis
Mutations and polymorphisms in the prion protein gene
A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations
Exon 44 nonsense mutation in two-duchenne muscular dystrophy brothers detected by heteroduplex analysis
Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta
Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: α1-antitrypsin deficiency variant Pduarte
Phenylalanine hydroxylase gene: A novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria ✓ German and Polish families
The APC (adenomatous polyposis coli) gene: A novel mutation in an FAP patient and a DdeI polymorphism in the 5′ noncoding region
Announcement
Masthead
An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy
Single-stranded conformation polymorphism analysis of the CFTR gene in slovenian cystic fibrosis patients: Detection of mutations and sequence variations
A novel nonsense mutation in the human dystrophin gene
Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations
Molecular screening of Japanese patients with gaucher disease: Phenotypic variability in the same genotypes
A de novo G+1 → a mutation at the α2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI Type IV proband
Transthyretin ALA 71: A new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy ✓ Spanish family
Molecular analysis of a patient with hydrops fetalis caused by β-glucuronidase deficiency, and evidence for additional pseudogenes
Familial genetic defect in a case of leukocyte adhesion deficiency
Complex mutation 4114 ATA → TT in Exon 22 of the cystic fibrosis gene CFTR
Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy
Announcement
Masthead
Molecular basis of type I (tryrosinase-related) oculocutaneous albinism: Mutations and polymorphisms of the human tyrosinase gene
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta
A rapid and reliable PCR method for genotyping the ABO blood group
Masthead
Editorial
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex
Screening for molecular pathologies in Lesch-Nyhan syndrome
Mutation in Scheie syndrome (MPS IS): A G→A transition creates new splice site in intron 5 of one IDUA allele
An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels ✓ African-American
Molecular characterisation of Vietnamese HPFH
A suggested nomenclature for designating mutations
Rhodopsin mutations in autosomal dominant retinitis pigmentosa
Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island
Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis
Masthead
Mutational analysis ofSRY in XY females
Genomic instability occurs in colorectal carcinomas but not in adenomas
Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion ✓ filipino
Tay—Sachs disease in an israeli arab family: Try26→stop in the α-subunit of hexosaminidase A ✓ israeli arab family
Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene
Alu repeats in the human factor IX gene: The rate of polymorphism is not substantially elevated
Sequencing of the Alzheimer's APP gene Dutch variant (APP-D)
Type A Niemann-Pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients ✓ Ashkenazi Jewish patients