Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 7
Results: 68
Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 981
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- Article
The state of DNA methylation in the promoter and exon 1 regions of the human gene for the interleukin-2 receptor α chain (IL-2Rα) in various cell types.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 993
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- Article
An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 989
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- Article
Molecular definition of the extreme size polymorphism in apolipoprotein(a).
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 933
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- Article
Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 975
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- Article
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 961
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- Article
Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 953
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- Article
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 947
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- Article
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 941
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- Article
Paired STSs amplified from radiation hybrids, and from associated YACs, identify highly polymorphic loci flanking the ataxia telangiectasia locus on chromosome 11q22–23.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 969
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- Article
Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 925
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- Article
Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 921
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- Article
PAX6 mutations in aniridia.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 915
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A microsatellite-based index map of human chromosome 11.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 909
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- Article
A transcription map of the region containing the Huntington disease gene.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 901
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- Article
Construction of cosmid contigs and high-resolution restriction mapping of the Huntington disease region of human chromosome 4.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 889
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- Publication type:
- Article
Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 883
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- Article
Mapping the Von Hippel — Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 879
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- Article
Exclusion of the involvement of all known Retinitis Pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 875
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- Article
Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 869
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- Publication type:
- Article
Genetic mapping of the β1- and γ-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 863
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- Article
Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the α1, β1, and γ subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 857
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- Article
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 851
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- Article
Malignant hyperthermia hots up!
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 849
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Positional cloning uncovers a new old oncogene.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 847
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Author index.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1095
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- Article
New human DNA polymorphisms submitted to the genome data base.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1089
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- Article
Length polymorphism within a complex dinucleotide repeat in the human decorin (DCN) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1087
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Tetranucleotide repeat polymorphism at the D8S344 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1087
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A CA dinucleotide polymorphism at D17S107 (17q12–q24).
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1086
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- Article
A Pstl polymorphism in the 3′ end of the human type IV collagen alpha 3 chain (COL4A3) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1086
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- Article
Two consecutive dinucleotide repeats constitute an informative marker at the α1-antichymotrypsin (AACT) locus.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1085
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- Article
Dinucleotide repeat polymorphism at the D6S348 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1085
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A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1084
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An EcoRI polymorphism in the AML1 gene.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1084
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- Article
A compound nucleotide repeat in the neurofibro-matosis (NF1) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1083
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A microsatellite polymorphism at the THRB locus.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1083
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Dinucleotide repeat polymorphism at the locus D13S231.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1082
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Banl and Pvull polymorphisms in intron 2 of selection E (SELE).
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1082
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Dinucleotide repeat polymorphism at the D11S982E locus.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1081
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- Article
Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1081
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- Article
Human Bg/ll/Bc/l RFLP recognized by 3' region of human MAP 2 gene probe.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1080
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- Article
Tetranucleotide repeat polymorphism at D17S846 maps within 40 kb of GAS at 17q12–q22.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1080
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A Taql site identifies the A allele at the ACP1 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1079
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The detection of a VNTR at the Huntington disease genetic marker D4S10.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1079
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Dinucleotide repeat polymorphism at the DXS1146 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1078
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Dinucleotide repeat polymorphisms at the D4S126 and D4S114 loci.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1077
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A new mutation of exon 5 of the P53 gene in breast cancer.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1075
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- Article
A new mutation causing inherited growth hormone deficiency: a compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1073
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- Article
Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1071
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- Publication type:
- Article