Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 4
Results: 46
ERRATA.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 686
- Publication type:
- Article
CORRIGENDA.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 684
- Publication type:
- Article
ADDITIONAL INFORMATION.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 684
- Publication type:
- Article
Author index.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 683
- Publication type:
- Article
BamHI RFLP for the GHRHR locus.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 682
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An intragenic Taql RFLP at the PAX5 locus.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 681
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Tetranucleotide repeat polymorphism at the D8S322 locus.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 681
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CA repeat polymorphism at the TCF8 locus.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 680
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Dinucleotide repeat polymorphism at the DXS1683 locus.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 680
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Dinucleotide repeat polymorphism in the IL2 and IL5RA genes.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 679
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A microsatellite, D8S602, adjacent to the MSR gene.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 679
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A PCR method for detecting polymorphism in the TGFA gene.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 678
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Taql polymorphism in intron 2 of the GCDH gene.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 678
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D20S213, a microsatellite polymorphism near the D20S16 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 677
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D10S681, a microsatellite polymorphism near the RET locus.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 677
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Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 675
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Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 671
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- Article
Detection of 8 new mutations in the α-galactosidase A gene in Fabry disease.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 667
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Homozygosity for a novel missense mutation (1175V) in exon 5 of the CFTR gene in a family of Armenian descent.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 661
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- Article
Characterization and tissue-specific expression of the human ‘very low density lipoprotein (VLDL) receptor’ mRNA.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 531
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Sandwiching of a gene within 12 kb of a functional telomere and alpha satellite does not result in silencing.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 539
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- Article
Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 663
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Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 659
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- Publication type:
- Article
Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 657
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- Publication type:
- Article
A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 655
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A novel splice donor mutation affecting position + 3 in intron 6 of the factor VIII gene.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 651
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Identification of a novel S0D1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of lle113Thr in three others.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 649
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A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 647
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Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 643
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Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE).
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 639
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Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 635
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High resolution ordering of YAC contigs using extended chromatin and chromosomes.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 629
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Towards high resolution maps of the mouse and human genomes—a facility for ordering markers to 0.1 cM resolution.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 621
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- Publication type:
- Article
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 615
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CFTR haplotype backgrounds on normal and mutant CFTR genes.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 607
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Isolation of human simple repeat loci by hybridization selection.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 599
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Detailed mapping of germline deletions of the von Hippel—Lindau disease tumour suppressor gene.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 595
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A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 589
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Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 585
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A differential efficiency of adenovirus-mediated in vivo gene transfer into skeletal muscle cells of different maturity.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 579
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- Publication type:
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Evidence for a microdeletion in 1q32–41 involving the gene responsible for Van der Woude syndrome.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 575
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- Article
Apolipoprotein E, ɛ4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 569
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Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 565
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The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 559
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Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 553
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A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 547
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