DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 1, p. 20, doi. 10.1007/s100380300003
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- Publication type:
- Article
Works matching IS 14345161 AND DT 2003 AND VI 48 AND IP 1
Results: 7
1
2
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 1, p. 8, doi. 10.1007/s100380300001
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- Publication type:
- Article
3
The interleukin 6 -174G/C Polymorphism is associated with indices of obesity in men.
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- Journal of Human Genetics, 2003, v. 48, n. 1, p. 14, doi. 10.1007/s100380300002
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- Publication type:
- Article
4
Genotype and haplotype distributions of MTHFR 677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 1, p. 1, doi. 10.1007/s100380300000
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- Publication type:
- Article
5
Catalog of 668 SNPs detected among 31 genes encoding potential drug targets on the cell surface.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 1, p. 23, doi. 10.1007/s100380300004
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- Publication type:
- Article
6
A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 1, p. 47, doi. 10.1007/s100380300005
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- Publication type:
- Article
7
Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 1, p. 51, doi. 10.1007/s100380300006
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- Publication type:
- Article