A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 313, doi. 10.1038/jhg.2009.24
- By:
- Publication type:
- Article
Works matching IS 14345161 AND DT 2009 AND VI 54 AND IP 6
Results: 12
1
2
Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 317, doi. 10.1038/jhg.2009.31
- By:
- Publication type:
- Article
3
Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 324, doi. 10.1038/jhg.2009.32
- By:
- Publication type:
- Article
4
MEFV mutation carriage in Israeli Jewish individuals from ethnicities with low risk for familial Mediterranean fever.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 369, doi. 10.1038/jhg.2009.33
- By:
- Publication type:
- Article
5
TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 331, doi. 10.1038/jhg.2009.34
- By:
- Publication type:
- Article
6
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 335, doi. 10.1038/jhg.2009.37
- By:
- Publication type:
- Article
7
Diverse genetic origin of Indian Muslims: evidence from autosomal STR loci.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 340, doi. 10.1038/jhg.2009.38
- By:
- Publication type:
- Article
8
Revisiting the peopling of Japan: an admixture perspective.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 349, doi. 10.1038/jhg.2009.39
- By:
- Publication type:
- Article
9
Molecular cloning of t(2;7)(p24.3;p14.2), a novel chromosomal translocation in myelodysplastic syndrome-derived acute myeloid leukemia.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 355, doi. 10.1038/jhg.2009.40
- By:
- Publication type:
- Article
10
Frequencies of genotypes and alleles of the functional SNPs in CYP2C19 and CYP2E1 in mainland Chinese Kazakh, Uygur and Han populations.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 372, doi. 10.1038/jhg.2009.41
- By:
- Publication type:
- Article
11
Arg347Cys polymorphism of α1A-adrenoceptor gene is associated with blood pressure response to nifedipine GITS in Chinese hypertensive patients.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 360, doi. 10.1038/jhg.2009.42
- By:
- Publication type:
- Article
12
Mutations in the LMNA gene do not cause axonal CMT in Czech patients.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 365, doi. 10.1038/jhg.2009.43
- By:
- Publication type:
- Article