Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 2
Results: 55
Dinucleotide repeat polymorphism for HLX1 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 392
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Author index.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 391
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An EcoRI RFLP at the D6S509E locus.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 388
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TaqI/Clal polymorphism in the P4HB gene.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 387
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VNTR at the DXYS14 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 389
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EcoRl and BglII polymorphisms at the BPI-locus.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 389
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Dinucleotide repeat polymorphism at the DXS1283E locus.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 388
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Dinucleotide repeat polymorphism at the D18S336 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 390
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A PCR generated AccI RFLP in the 3′ untranslated region of the von Hippel — Lindau disease (VHL) tumour suppressor gene.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 390
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Dinucleotide repeat polymorphism at D9S328E (EST hbc220).
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 387
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Tetranucleotide repeat polymorphism (D8S582) for human EST00680 (D8S340E).
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 386
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Transcribed dinucleotide repeat polymorphism in the IGF2 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 386
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BstUI and Dpnll RFLPs at the COL5A1 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 385
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Dinucleotide repeat polymorphism at D7S813.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 385
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New alleles in F7 VNTR.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 384
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Dinucleotide repeat polymorphisms in the HSD3B2 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 384
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Tetranucleotide repeat polymorphism at the D8S474 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 383
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Pstl RFLP at the SERT locus.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 383
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Two dinucleotide repeats tightly linked to D12S91.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 382
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Dinucleotide repeat polymorphism at D15S221.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 382
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Three dinucleotide markers on chromosome 21.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 381
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Chromosome 13 and chromosome 2 (CA)n polymorphisms.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 380
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Single nucleotide dimorphism in the transcribed region of the SNRPN gene at 15q12.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 379
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Steroid 11β-hydroxylase deficiency caused by a five base pair duplication in the CYP11B1 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 377
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Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15–21 in Marfan syndrome patients.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 373
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Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 371
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A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 369
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Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin geneother.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 367
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A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 365
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Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 363
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Genetic linkage of familial expansile osteolysis to chromosome 18q.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 359
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Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 355
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Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 351
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Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 347
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Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 341
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Imprinting analysis of three genes in the Prader — Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 309
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A point mutation responsible for human erythrocyte AMP deaminase deficiency.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 331
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Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273ΔAA in type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 327
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Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the β-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 323
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Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 317
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The E subunit of vacuolar H-ATPase localizes close to the centromere on human chromosome 22.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 335
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Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 303
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Localizaion of the gene for dominant cystoid macular dystrophy on chromosome 7p.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 299
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An explanation for the constitutive exon 9 cassette splicing of the DMD gene.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 295
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Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 285
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Activation of the ΓE-crystallin pseudogene in the human hereditary Coppock-like cataract.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 279
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The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 273
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The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 265
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Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 257
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Instability of simple sequence repeats in a mammalian cell line.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 253
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