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Journal of Human Genetics|March 17, 2017
Novel mutations of PDGFRB cause primary familial brain calcification in Chinese familiesChong Wang, Xiang-Ping Yao, Hai-Ting Chen, et al.Journal of Human Genetics|March 10, 2017
Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patientsKiyoshiro Nagamatsu, Yoshiki Sekijima, Katsuya Nakamura, et al.Journal of Human Genetics|August 21, 2019
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14Eungu Kang, Taeho Kim, Arum Oh, et al.Journal of Human Genetics|June 4, 1998
Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibriumM Saito, H Matsumine, H Tanaka, et al.Journal of Human Genetics|June 4, 1998
-6A promoter variant of angiotensinogen and blood pressure variation in Canadian Oji-CreeR A Hegele, S B Harris, A J Hanley, et al.Journal of Human Genetics|June 4, 1998
High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer familiesT Katagiri, F Kasumi, M Yoshimoto, et al.Journal of Human Genetics|June 4, 1998
A SacII polymorphism in the human ASCL2 (HASH2) gene regionT Miyamoto, Y Jinno, K Miura, et al.Journal of Human Genetics|December 20, 2003
Common single nucleotide polymorphisms of the MDR1 gene have no influence on its mRNA expression level of normal kidney cortex and renal cell carcinoma in Japanese nephrectomized patientsYuichi Uwai, Satohiro Masuda, Maki Goto, et al.Journal of Human Genetics|October 14, 2004
Comparative study of the haplotype structure and linkage disequilibrium of chromosome 1p36.2 region in the Korean and Japanese populationsTamao Akesaka, Seong-Gene Lee, Jun Ohashi, et al.Journal of Human Genetics|January 18, 2005
Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-based Japanese samplesYing Liu, Kimio Yoshimura, Tomoyuki Hanaoka, et al.Pageof 353