Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 6
Results: 52
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1005
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- Article
Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1003
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- Article
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1001
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Identification of two new mutations (711 + 3A→G and V1397E) in CF chromosomes of Albanian and Macedonian origin.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 999
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- Article
Polymorphisms in the keratin 8 gene detected by PCR.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1031
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- Article
Author index.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1033
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- Article
Seven polymorphisms at the COL10A1 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1032
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- Article
Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 loci.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1029
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- Article
Three microsatellite polymorphisms at the recoverin locus on chromosome 17.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1028
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- Article
Isolation and fine mapping of (CA)n repeats from the Xp11.23 and Xp11.4 region.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1027
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- Article
A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1025
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- Article
Four novel germ-line mutations in the APC gene detected by heteroduplex analysis.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1023
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- Article
Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1α subunit.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1021
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- Article
A nonsense mutation (R220X) in the α-galactosidase A gene detected in a female carrier of Fabry disease.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1019
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- Article
Missense mutation in the choroideremia gene.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1017
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- Article
A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker).
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1015
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- Article
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1013
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- Article
A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells — implications for predictive diagnosis.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1009
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- Article
A de novo mutation of the RET proto-oncogene in a patient with MEN 2A.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1007
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- Article
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 963
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- Article
Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct sequencing.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1033
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- Article
Mutations in the connexin 32 gene in X-linked dominant Charcot—Marie—Tooth disease (CMTX1).
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1033
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- Article
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 997
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- Article
One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 995
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- Article
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 989
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- Article
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 981
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- Article
Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 977
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- Article
Localization of the gene encoding the α2/δ-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 969
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- Article
SSCP at the BTK locus.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1031
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- Article
The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23–q24.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 959
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- Article
Two complementation groups account for most cases of inherited MHC class II deficiency.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 953
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Are duplications of mitochondrial DNA characteristic of Kearns—Sayre syndrome?
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 947
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- Article
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 941
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- Article
Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2).
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 937
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- Article
Rapid chromosome identification by oligonucleotide-primed in situ DNA synthesis (PRINS).
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 931
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- Article
No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 927
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- Article
Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 923
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- Article
Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 919
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- Article
A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 915
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- Article
The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 909
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- Article
Molecular genetic analysis of the 3p — syndrome.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 903
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- Article
TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 6, p. 897
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- Article
Detection of aberrant DNA methylation in unique Prader — Willi syndrome patients and its diagnostic implications.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 893
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- Article
Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 885
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- Article
A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 879
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- Article
A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 873
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- Article
Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 867
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- Article
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 6, p. 861
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- Article
Human immunoglobulin VH and D segments on chromosomes 15q11.2 and 16p11.2.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 6, p. 853
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- Article
Dsal polymorphism at the human cone transducin α-subunit (GNAT2) detected by PCR.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1030
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- Publication type:
- Article