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
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 1
Results: 30
1
2
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.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 1
- By:
- Publication type:
- Article
3
Author index.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 93
- Publication type:
- Article
4
A highly informative dinucleotide repeat polymorphism at the D2S211 locus linked to ALPP, FN1 and TNP1.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 88
- By:
- Publication type:
- Article
5
Three dinucleotide microsatellite polymorphisms on human chromosome 13.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 87
- By:
- Publication type:
- Article
6
Dinucleotide repeat polymorphisms at the D13S192 and D13S193 loci.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 86
- By:
- Publication type:
- Article
7
Dinucleotide repeat polymorphism at the CRH gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 85
- By:
- Publication type:
- Article
8
A novel cystic fibrosis mutation: deletion of seventeen nucleotides at the exon 10-intron 10 boundary of the CFTR gene, in a Sardinian patient.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 83
- By:
- Publication type:
- Article
9
G6PD Aures: a new mutation (48 lle → Thr) causing mild G6PD deficiency is associated with favism.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 81
- By:
- Publication type:
- Article
10
A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 79
- By:
- Publication type:
- Article
11
Point mutation in a Becker muscular dystrophy patient.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 75
- By:
- Publication type:
- Article
12
Molecular cloning and characteristics of a new apolipoprotein C-II mutant identified in three unrelated individuals with hypercholesterolemia and hypertriglyceridemia.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 69
- By:
- Publication type:
- Article
13
Ten novel mutations in the HEXA gene in non-Jewish Tay — Sachs patients.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 61
- By:
- Publication type:
- Article
14
Localization of seven new genes around the HLA-A locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 55
- By:
- Publication type:
- Article
15
Identification of 12 novel mutations in the CFTR gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 51
- By:
- Publication type:
- Article
16
Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 43
- By:
- Publication type:
- Article
17
Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 39
- By:
- Publication type:
- Article
18
Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 35
- By:
- Publication type:
- Article
19
IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 31
- By:
- Publication type:
- Article
20
Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 23
- By:
- Publication type:
- Article
21
A missense mutation in the proteolipid protein gene responsible for Pelizaeus—Merzbacher disease in a Japanese family.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 19
- By:
- Publication type:
- Article
22
Analyis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 11
- By:
- Publication type:
- Article
23
Dinucleotide repeat polymorphism at the DXS573 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 92
- By:
- Publication type:
- Article
24
Polymorphism of the protein C inhibitor (PCI) gene on chromosome 14.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 92
- By:
- Publication type:
- Article
25
Dinucleotide repeat polymorphism at the D18S99 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 91
- By:
- Publication type:
- Article
26
A Mspl polymorphism and linkage mapping of the human proteintyrosine phosphatase G (PTPRG) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 91
- By:
- Publication type:
- Article
27
Dinucleotide repeat polymorphism at the D5S178 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 90
- By:
- Publication type:
- Article
28
A short tandem repeat polymorphism at the endothelin 1 (EDN1) locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 90
- By:
- Publication type:
- Article
29
A polymorphic dinucleotide repeat probe on chromosome 3p: LIB 44-36ca (D3S769).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 89
- By:
- Publication type:
- Article
30
Tetranucleotide repeat polymorphism at the D11S488 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 89
- By:
- Publication type:
- Article