Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 1
Results: 30
Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 5
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- Article
cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 1
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Author index.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 93
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- Article
A highly informative dinucleotide repeat polymorphism at the D2S211 locus linked to ALPP, FN1 and TNP1.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 88
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Three dinucleotide microsatellite polymorphisms on human chromosome 13.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 87
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Dinucleotide repeat polymorphisms at the D13S192 and D13S193 loci.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 86
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Dinucleotide repeat polymorphism at the CRH gene.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 85
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- Article
A novel cystic fibrosis mutation: deletion of seventeen nucleotides at the exon 10-intron 10 boundary of the CFTR gene, in a Sardinian patient.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 83
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G6PD Aures: a new mutation (48 lle → Thr) causing mild G6PD deficiency is associated with favism.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 81
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- Article
A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 79
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Point mutation in a Becker muscular dystrophy patient.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 75
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Molecular cloning and characteristics of a new apolipoprotein C-II mutant identified in three unrelated individuals with hypercholesterolemia and hypertriglyceridemia.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 69
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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. 1, p. 61
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Localization of seven new genes around the HLA-A locus.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 55
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Identification of 12 novel mutations in the CFTR gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 51
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Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 43
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- Article
Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 39
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- Article
Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 35
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IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 31
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Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 23
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A missense mutation in the proteolipid protein gene responsible for Pelizaeus—Merzbacher disease in a Japanese family.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 19
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Analyis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 11
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Dinucleotide repeat polymorphism at the DXS573 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 92
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Polymorphism of the protein C inhibitor (PCI) gene on chromosome 14.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 92
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Dinucleotide repeat polymorphism at the D18S99 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 91
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A Mspl polymorphism and linkage mapping of the human proteintyrosine phosphatase G (PTPRG) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 91
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Dinucleotide repeat polymorphism at the D5S178 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 90
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A short tandem repeat polymorphism at the endothelin 1 (EDN1) locus.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 90
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A polymorphic dinucleotide repeat probe on chromosome 3p: LIB 44-36ca (D3S769).
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 89
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Tetranucleotide repeat polymorphism at the D11S488 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 89
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