Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 4
Results: 41
Identification of 12 novel mutations in the CFTR gene.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 496
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Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 496
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Author index.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 495
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- Article
Trinucleotide (GGN) repeat polymorphism in the human androgen receptor (AR) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 493
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A Pvull-polymorphism within the AXL gene on chromosome 19q13.1.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 492
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Dinucleotide repeat polymorphism at the D11S480 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 492
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A polymorphic dinucleotide repeat at the ZNF22 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 491
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A polymorphic dinucleotide repeat at the D10S141 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 491
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Dinucleotide repeat polymorphisms at the D2S108 and D2S109 loci.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 490
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Dinucleotide repeat polymorphism at the D14S99E locus.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 490
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Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 489
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A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 488
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Apal, Bsml, EcoRV and Taql polymorphisms at the human vitamin D receptor gene locus in Caucasians, Blacks and Asians.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 487
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A polymorphic Msel site 5' to the factor IX gene varies among ethnic groups.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 486
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Lack of independence between five DNA polymorphisms in the NF1 gene.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 485
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A simple and rapid PCR based method for AGUFin determination.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 484
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Detection of polymorphisms in the estradiol 17β-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11–q21.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 479
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A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 475
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A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1α gene (PDHA1).
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 473
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- Article
Loss of the ‘azoospermia factor’ (AZF) on Yq in man is not associated with loss of HYA.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 469
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Pelizaeus — Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 465
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Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 461
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Subtelomeric as well as telomeric sequences are lost from chromosomes in proliferating B lymphocytes.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 455
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Mutations in the X-linked E1α subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 449
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Segregation of ΔF508 and normal CFTR alleles in human sperm.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 445
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Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 439
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A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 431
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Fucosidosis: four new mutations and a new polymorphism.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 423
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The genomic organisation of the human pseudoautosomal gene MIC2 and the detection of a related locus.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 417
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A study of the origin of ‘shadow bands’ seen when typing dinucleotide repeat polymorphisms by the PCR.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 411
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Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 405
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Alternative splicing in the fragile X gene FMR1.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 399
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Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 393
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Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 385
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A G → A substitution in an HNF I binding site in the human α-fetoprotein gene is associated with hereditary persistence of α-fetoprotein (HPAFP).
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 379
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Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 373
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Genomic organization, chromosomal localization and promoter function of the human zinc-finger gene pAT133.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 367
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The apolipoprotein(a) kringle IV repeats which differ from the major repeat kringle are present in variably-sized isoforms.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 361
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Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 355
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Exclusion of FAU as the Multiple Endocrine Neoplasia type 1 (MEN1) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 349
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The Huntington disease gene—still a needle in a haystack?
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 343
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