Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 197, doi. 10.1007/s100380070026
- By:
- Publication type:
- Article
Works matching IS 14345161 AND DT 2000 AND VI 45 AND IP 4
Results: 14
1
2
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 200, doi. 10.1007/s100380070027
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- Publication type:
- Article
3
Detection of genetic variation in Indian population groups using a novel minisatellite probe and finding relationships through tree construction.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 207, doi. 10.1007/s100380070028
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- Publication type:
- Article
4
Genomic structure and chromosomal mapping of the human Site-1 protease (S1P) gene.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 212, doi. 10.1007/s100380070029
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- Publication type:
- Article
5
Carrier detection and prenatal diagnosis of hemophilia A in a Korean population by PCR-based analysis of the BclI/intron 18 and St14 VNTR polymorphisms.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 218, doi. 10.1007/s100380070030
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- Publication type:
- Article
6
Genetic polymorphism of RhD-negative associated haplotypes in the Chinese.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 224, doi. 10.1007/s100380050006
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- Publication type:
- Article
7
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 231, doi. 10.1007/s100380070032
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- Publication type:
- Article
8
Association between single nucleotide polymorphisms in the hMSH3 gene and sporadic colon cancer with microsatellite instability.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 228, doi. 10.1007/s100380070031
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- Publication type:
- Article
9
A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 237, doi. 10.1007/s100380070033
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- Publication type:
- Article
10
Molecular and structural studies of Japanese patients with sialidosis type 1.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 241, doi. 10.1007/s100380070034
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- Publication type:
- Article
11
Eleven single nucleotide polymorphisms and one triple nucleotide insertion of the human TGF-β III receptor gene.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 250, doi. 10.1007/s100380070035
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- Publication type:
- Article
12
Identification of novel polymorphisms in the AXIN1 and CDX-2 genes.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 254, doi. 10.1007/s100380070036
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- Publication type:
- Article
13
The C677T mutation in the methylene tetrahydrofolate reductase gene increases serum uric acid in elderly men.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 257, doi. 10.1007/s100380070037
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- Publication type:
- Article
14
Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 263, doi. 10.1007/s100380070038
- By:
- Publication type:
- Article