Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 1
Results: 61
Construction of a YAC contig and a STS map spanning at least seven megabasepairs in chromosome 5q34–35.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 99
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Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 93
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COMMENTARY: Recombination model for generation of a submicroscopic deletion in familial Angelman syndrome.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 9
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Sequence of the murine Huntington dusease gene: evidence for conservation, and polymorphism in a triplet (CCG) repeat alternate splicing.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 85
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Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 79
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Distribution of trinucleotide repeat sequences across a Mbp region containing the Huntington's disease gene.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 73
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Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 69
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A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 65
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Genes encoding general initiation factors for RNA polymerase II transcription are dispersed in the human genome.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 61
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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 DNA sequencing.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 57
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Author index.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 221
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Dinucleotide repeat polymorphism for HLX1 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 219
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Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 39
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The gene for Darier's disease maps between D12S78 and D12S79.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 35
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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. 1, p. 29
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Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 53
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High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 45
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Two microsatellite repeat polymorphisms in the EPO gene.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 219
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Taqlpolymorphism of the human tissue inhibitor of metallo-proteinases-2 (Timp2) gene.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 218
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A polymorphic dinucleotide repeat in the third intron of TAP1.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 218
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A common amino acid polymorphism in complement component C1R.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 217
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A dinucleotide repeat in the third intron of CD36.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 217
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Dinucleotide repeat polymorphism in the human RFX1 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 216
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Dinucleotide repeat polymorphism at D16S533.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 216
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Tetranucleotide length polymorphism 5' of the α2-macroglobulin receptor (A2MR)/LDL receptor-related protein (LRP) gene.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 215
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Dinucleotide repeats flanking the renal carcinoma breakpoint at 3p14.2.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 215
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Dinucleotide repeat polymorphism within ERCC5 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 214
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Tetranucleotide repeat polymorphism at the D8S346 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 214
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Mnll polymorphism for the AGTR1 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 213
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A dinucleotide repeat polymorphism in the FCERIB gene.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 213
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A dinucleotide repeat polymorphism in the FCERIB gene.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 212
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Dinucleotide repeat polymorphism at the FGFR1 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 212
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Simple repeat polymorphism at the D9S151 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 211
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Dinucleotide repeat polumorphisms at the D16S525, D16S359. D16S531 and D16S522 loci.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 210
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Complete androgen insensitivity due to mutations in the probable α-helical segments of the DNA-binding domain in the human androgen receptor.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 21
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Detection of four polymorphic sites in the human dopamine D1 receptor gene (DRD1).
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 209
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Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 207
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A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 205
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Identification of a novel mutation (Leu 256— Pro) in the human aldolase B gene associated with hereditary tructose Intolerance.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 203
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Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 201
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Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch—Nyhan syndrome.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 199
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A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 197
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A missense mutation (His–Arg) and a silent (Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 195
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Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 193
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Microdeletions in the factor IX gene: three recurrences associated with a quasipalindromic sequence.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 191
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The mouse homologue of the neurofibromatosis type 2 gene is highly conserved.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 185
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Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 181
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Autosomal dominant cerebellar ataxia with dementla: evidence for a fourth disease locus.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 177
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A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 173
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Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 167
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