Works matching IS 14345161 AND DT 2002 AND VI 47 AND IP 2

Results: 10

Evidence for an association between plasma platelet-activating factor acetylhydrolase deficiency and increased risk of childhood atopic asthma.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 2, p. 99, doi. 10.1007/s100380200009

By:

Ito, Seiko;
Noguchi, Emiko;
Shibasaki, Masanao;
Yamakawa-Kobayashi, Kimiko;
Watanabe, Hideki;
Arinami, Tadao

Publication type:

Article

A new haplogroup pattern displayed in Fujian Han in China.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 2, p. 95

By:

Yu, Min;
Zhang, Yongli;
Xue, Yali;
Chen, Feng;
Wang, Qi;
Huang, Xiaoyi;
Wang, Baiqui;
Yu, Yang;
Liu, An;
Ma, Linlin;
Shi, Rongqian;
Lu, Fuqu;
Shi, Zhongcheng;
Zhang, Yu;
Cheng, Wenhong;
Ai, Qionghua;
Xu, Fang;
Huang, Chengbin;
Chen, Baibin

Publication type:

Article

Distinctive distribution of AIM1 polymorphism among major human populations with different skin color.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 2, p. 92, doi. 10.1007/s100380200007

By:

Nakayama, Kazuhiro;
Fukamachi, Shoji;
Kimura, Hiroshi;
Koda, Yoshiro;
Soemantri, Augustinus;
Ishida, Takafumi

Publication type:

Article

Functional polymorphism in the promoter region of the gelatinase B gene in relation to coronary artery disease and restenosis after percutaneous coronary intervention.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 2, p. 88, doi. 10.1007/s100380200006

By:

Cho, Hyun-Jai;
Chae, In-Ho;
Park, Kyung-Woo;
Ju, Jae-Ran;
Oh, Seil;
Lee, Myoung-Mook;
Park, Young-Bae

Publication type:

Article

Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 2, p. 80, doi. 10.1007/s100380200005

By:

Hattori, Hiroaki;
Hirayama, Tsunenori;
Nobe, Yukiko;
Nagano, Makoto;
Kujiraoka, Takeshi;
Egashira, Tohru;
Ishii, Jun;
Tsuji, Masahiro;
Emi, Mitsuru

Publication type:

Article

Nonaka myopathy is caused by mutations in the UDP- N-acetylglucosamine-2- epimerase/ N-acetylmannosamine kinase gene ( GNE).

Published in:

Journal of Human Genetics, 2002, v. 47, n. 2, p. 77, doi. 10.1007/s100380200004

By:

Tomohiko Kayashima;
Hidenori Matsuo;
Akira Satoh;
Tohru Ohta;
Koh-ichiro Yoshiura;
Naomichi Matsumoto;
Yoshibumi Nakane;
Norio Niikawa;
Tatsuya Kishino

Publication type:

Article

Thirteen single-nucleotide polymorphisms (SNPs) in the alcohol dehydrogenase 4 ( ADH4) gene locus.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 2, p. 74, doi. 10.1007/s100380200003

By:

Aritoshi Iida;
Susumu Saito;
Akihiro Sekine;
Kimie Kondo;
Chihiro Mishima;
Yuri Kitamura;
Satoko Harigae;
Saori Osawa;
Yusuke Nakamura

Publication type:

Article

Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 2, p. 66, doi. 10.1007/s100380200002

By:

Chia-Hsiang Chen;
Wen-Yu Chen;
Hui-Lin Liu;
Tze-Tze Liu;
Ann-Ping Tsou;
Ching-Yuang Lin;
Ting Chao;
Yu Qi;
Kwang-Jen Hsiao

Publication type:

Article

Molecular analysis of mutations and polymorphisms of the Lewis secretor type α (1,2)-fucosyltransferase gene reveals that Taiwan aborigines are of Austronesian derivation.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 2, p. 60, doi. 10.1007/s100380200001

By:

Chang, Jan-Gowth;
Ko, Ying-Chin;
Chun-I Lee, James;
Chang, Shun-Jen;
Ta-Chih Liu;
Mu-Chin Shih;
Ching-Tien Peng

Publication type:

Article

Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 2, p. 55, doi. 10.1007/s100380200000

By:

Horinishi, Asako;
Okubo, Minoru;
Tang, Nelson L.S.;
Hui, Joannie;
To, Ka-Fai;
Mabuchi, Tomohito;
Okada, Toshihide;
Mabuchi, Hiroshi;
Murase, Toshio

Publication type:

Article