Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 9
Results: 52
Characterization of chromosome 9 deletions in transitional cell carcinoma by microsatellite assay.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1407
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- Article
Allelic association and linkage studies in Wilson disease.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1401
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The density of transcriptional elements in promoter and non-promoter sequences.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1449
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Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1429
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- Article
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1423
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Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1413
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Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1443
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Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1437
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Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1397
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Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1389
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- Article
The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1383
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Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1377
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The human D11S554 locus: four distinct families of repeat pattern alleles at one locus.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1373
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Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1369
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Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1361
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Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1355
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A novel SCN4A mutation causing myotonia aggravated by cold and potassium.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1349
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Dinucleotide repeat polymorphism at the KCNA5 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1512
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Tetranucleotide repeat polymorphism at the D8S320 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1512
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Author index.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1521
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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. 9, p. 1515
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- Article
Dinucleotide repeat polymorphism in the promoter region of neurotrophin-3 gene (NT3).
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1511
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Trinucleotide repeat polymorphism at D6S366.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1511
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HindIII polymorphism in the BCL6 gene.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1513
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An EcoRI polymorphism within the dipeptidyl peptidase IV (DPPIV) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1507
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Three dinucleotide repeat polymorphisms on human chromosome 16p 13.11–p13.3.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1506
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Six dinucleotide repeat polymorphisms on human chromosome 16q12.1 – q24.1.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1505
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An Mspl polymorphism at the D7S599E locus.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1510
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Five dinucleotide repeat polymorphisms on human chromosome 16q24.2 – q24.3.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1504
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Primers for the dinucleotide repeat at the DXS453 locus also recognizes the DXS983 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1510
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Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1503
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p53 Gain-of-function mutation in codon 175 is a rare event in human breast cancer.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1501
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A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1499
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A novel splicing abnormality in a Japanese patient with Gaucher's disease.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1497
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Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1495
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- Article
EcoRI RFLP in the Fanconi anaemia complementation group C gene (FACC).
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1509
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An Ncil RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11 – 13.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1509
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A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1493
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Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1491
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A new (old) deletion in the choroideremia gene.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1489
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A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1487
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Trinucleotide repeat polymorphism at DXS101.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1508
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Dinucleotide repeat polymorphism in the inter-feron-gamma (IFNG) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1508
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Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1483
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Single-step screening method for the most common mutations in familial adenomatous polyposis.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1481
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Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1477
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Trinucleotide repeat elongation in the Huntingtin gene in Huntington Disease patients from 71 Danish families.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1475
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Multiple polymorphisms within the α-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1471
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Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1467
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Somatic mutations of the APC gene in precancerous lesion of the stomach.
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- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1463
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