Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 97
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 2
Results: 22
1
2
Cloning of the X-linked glycerol kinase gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 95
- By:
- Publication type:
- Article
3
Author index.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 209
- Publication type:
- Article
4
A large deletion at the 3′ end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 207
- By:
- Publication type:
- Article
5
Identification of a 3′ acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann - Pick disease.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 205
- By:
- Publication type:
- Article
6
A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denys— Drash syndrome.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 203
- By:
- Publication type:
- Article
7
Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 201
- By:
- Publication type:
- Article
8
The identification of a third fragile site, FRAXF, in Xq27 — q28 distal to both FRAXA and FRAXE.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 197
- By:
- Publication type:
- Article
9
Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 191
- By:
- Publication type:
- Article
10
FISH ordering of reference markers and of the gene for the α5 subunit of the γ-aminobutyric acid receptor (GABRA5) within the Angelman and Prader–Willi syndrome chromosomal regions.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 183
- By:
- Publication type:
- Article
11
Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 139
- By:
- Publication type:
- Article
12
High rate of multilocus deletion in a human tumor cell line.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 165
- By:
- Publication type:
- Article
13
Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 159
- By:
- Publication type:
- Article
14
Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 153
- By:
- Publication type:
- Article
15
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 143
- By:
- Publication type:
- Article
16
Genomic position influences spontaneous mutagenesis of an integrated retroviral vector containing the hprt cDNA as target for mutagenesis.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 173
- By:
- Publication type:
- Article
17
A large inverted duplicated DNA region associated with an amplified oncogene is stably maintained in a YAC.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 133
- By:
- Publication type:
- Article
18
Localization of the hydroxyindole-O-methyltransferase gene to the pseudoautosomal region: implications for mapping of psychiatric disorders.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 127
- By:
- Publication type:
- Article
19
A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 123
- By:
- Publication type:
- Article
20
Assignment of a gene locus involved in craniosynostosis to chromosome 5qter.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 119
- By:
- Publication type:
- Article
21
Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 115
- By:
- Publication type:
- Article
22
Isolation of the human Xp21 glycerol kinase gene by positional cloning.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 107
- By:
- Publication type:
- Article