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Human Mutation - 1992

87 articles | Last updated: 2025-12-03 14:12:57
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Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene
Prevalence of cystic fibrosis mutations in the East German population ✓ East German population
Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria
Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations
Masthead
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus
Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy
The unstable and methylatable mutations causing the fragile X syndrome
A novel β-globin structural mutant, Hb Brescia (β114 Leu-Pro), causing a severe β-thalassemia intermedia phenotype
Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?
Identification of two new missense mutations (R156C and S291L) in two ADA− SCID patients unusual for response to therapy with partial exchange transfusions
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype
Screening for mutations by expressing patient cDNA segments inE. coli: Homocystinuria due to cystathionine β-synthase deficiency
Missense variation of the CFTR gene codon 507
A novel δ-thalassemia mutation A G→C substitution at codon 30 of the δ-globin gene in a person of Southern Italian origin ✓ Southern Italian origin
Molecular basis of hexosamininidase a deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch ✓ Pennsylvania Dutch
Partial gene duplication as a cause of human disease
Myotonic dystrophy: Another case of too many repeats?
A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes
An N-acetylgalactosamine-4-sulfatase mutation (ΔG238) results in a severe Maroteaux-Lamy phenotype
A modified approach to identification of the sickle cell anemia mutation by means of allele-specific polymerase chain reaction
Linkage studies and mutation analysis of the PDEB gene in 23 families with leber congenital amaurosis
Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene
Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome
Screening for cystic fibrosis mutations in Southern France: Identification of a frameshift mutation and two missense variations
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method
Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Complete mutation detection using unlabeled chemical cleavage
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium
A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms
Polymorphic variation within “conserved” sequences at the 3′ end of the human RDS gene which results in amino acid substitutions
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs ✓ Palestinian Arabs
A novel β-thalassemia mutation (G→A) at the initiation codon of the β-globin gene
Identification of a new splicing mutation (406-1 G-C) in the CFTR gene
An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease ✓ Ashkenazi Jewish
ΔF508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus ✓ Greek-Cypriot community
Announcement
Editorial
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mild form of the diseas
Lethal perinatal osteogenesis imperfecta due to a type I collagen α2(I) gly to arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch
Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients
A novel mutation (Arg→Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A
Fabrillin (FBN1) mutations in Marfan syndrome
Announcement
Masthead
Genetic basis of galactosemia
A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two sicilian kindreds with hereditary amyloidosis ✓ Sicilian
Frequency and distribution of phenylketonuric mutations in orientals ✓ orientals
A sequence variation in intron 17B of the cystic fibrosis transmembrane conductance regulator gene
Rapid preparation of genomic DNA from dried blood and saliva spots for polymerase chain reaction
A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy
Human hepatic lipase mutations and polymorphisms
α-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype
Masthead
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains
Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes
CRIM-positive mutations of acute intermittent porphyria in Finland
Gene duplication in evolution
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients
Molecular analysis of neurofibromatosis type 1 mutations
Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome ✓ native Korean
Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis
Masthead
A glycine250 → aspartate substitution in the α-subunit of hexosaminidase a causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family ✓ Lebanese-Canadian family
Novel Tay-Sachs disease mutations from China
Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec ✓ French-Canadians from eastern Quebec
A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene
Somatic mutations at CA-repeat loci
Amino acid substitutions in conserved domains of factor VIII and related proteins: Study of patients with mild and moderately severe hemophilia A
Masthead
Replication errors may contribute to the generation of large deletions and duplications in the dystrophin gene
A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies ✓ non-jewish
A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family ✓ Arab family
Illegitimate transcription: Its use in the study of inherited disease
Mutations causing aspartylglucosaminuria (AGU): A lysosomal accumulation disease
A de novo phenylketonuria mutation: ATG (met) to ATA (ile) in the start codon of the phenylalanine hydroxylase gene
Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA
Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants
Protein C deficiency: Identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families ✓ Spanish families
Masthead
Two novel mutations responsible for hereditary type I protein C deficiency: Characterization by denaturing gradient gel electrophoresis