Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vector.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 1, doi. 10.1007/s100380050001
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- Publication type:
- Article
Works matching IS 14345161 AND DT 2000 AND VI 45 AND IP 1
Results: 13
1
2
Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 6, doi. 10.1007/s100380050002
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- Publication type:
- Article
3
Molecular cloning and characterization of two novel genes on chromosome 8p21.3.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 12, doi. 10.1007/s100380050003
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- Publication type:
- Article
4
Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 18, doi. 10.1007/s100380050004
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- Publication type:
- Article
5
Novel polymorphisms of the AP-2 gene (6p24): Analysis of association with schizophrenia.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 24, doi. 10.1007/s100380050005
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- Publication type:
- Article
6
cDNA cloning of a novel human gene NAKAP95, neighbor of A-kinase anchoring protein 95 (AKAP95) on chromosome 19p13.11-p13.12 region.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 31, doi. 10.1007/s100380070040
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- Publication type:
- Article
7
cDNA cloning, expression profile, and genomic structure of human and mouse RNF10/Rnf 10 genes, encoding a novel RING finger protein.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 38, doi. 10.1007/s100380050007
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- Publication type:
- Article
8
Isolation and characterization of a human cDNA encoding a protein homologous to the 7.2-kDa protein (subunit X) of bovine ubiquinol-cytochrome C reductase.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 43, doi. 10.1007/s100380050008
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- Publication type:
- Article
9
A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 47, doi. 10.1007/s100380050009
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- Publication type:
- Article
10
Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 52, doi. 10.1007/s100380050010
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- Publication type:
- Article
11
Identification of a novel Tru9 I polymorphism in the human vitamin D receptor gene.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 56, doi. 10.1007/s100380050011
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- Publication type:
- Article
12
Identification of a novel single nucleotide polymorphism (SNP) in the human organic cation transporter-like 2-antisense (ORCTL2S) gene.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 58, doi. 10.1007/s100380050012
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- Publication type:
- Article
13
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 60, doi. 10.1007/s100380050013
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- Publication type:
- Article