Works matching IS 14345161 AND DT 2002 AND VI 47 AND IP 12

Results: 9

Connexin26 gene ( GJB2): prevalence of mutations in the Chinese population.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 12, p. 688, doi. 10.1007/s100380200106

By:

Yuhe Liu;
Xiaomei Ke;
Yu Qi;
Wei Li;
Ping Zhu

Publication type:

Article

Identification of single-nucleotide and repeat polymorphisms in two candidate genes, interleukin 4 receptor ( IL4RA) and signal transducer and activator of transcription protein 6 ( STAT6), for Th2-mediated diseases.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 12, p. 684, doi. 10.1007/s100380200105

By:

Nagarkatti, Rana;
Ghosh, Balaram

Publication type:

Article

Identification of a novel human DDX40 gene, a new member of the DEAH-box protein family.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 12, p. 681

By:

Jian Xu;
Hai Wu;
Chengzhi Zhang;
Yueqiong Cao;
Liu Wang;
Li Zeng;
Xin Ye;
Qihan Wu;
Jianfeng Dai;
Yi Xie;
Yumin Mao

Publication type:

Article

Cloning, characterization, and chromosome mapping of the human GlcAT-S gene.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 12, p. 677, doi. 10.1007/s100380200103

By:

Marcos, Irene;
Galan, José Jorge;
Borrego, Salud;
Antiñolo, Guillermo

Publication type:

Article

Common variant of human NEDD4L activates a cryptic splice site to form a frameshifted transcript.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 12, p. 665, doi. 10.1007/s100380200102

By:

Dunn, Diane M.;
Ishigami, Tomoaki;
Pankow, James;
von Niederhaussen, Andrew;
Alder, Jonathan;
Hunt, Steven C.;
Leppert, Mark F.;
Lalouel, Jean-Marc;
Weiss, Robert B.

Publication type:

Article

Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 12, p. 656, doi. 10.1007/s100380200101

By:

Takada, Daisuke;
Emi, Mitsuru;
Ezura, Yoichi;
Nobe, Yukiko;
Kawamura, Katsumi;
Iino, Yasuhiko;
Katayama, Yasuo;
Yuanpei Xin;
Wu, Lily L.;
Larringa-Shum, Stacey;
Stephenson, Susan H.;
Hunt, Steven C.;
Hopkins, Paul N.

Publication type:

Article

Akaike's information criterion for a measure of linkage disequilibrium.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 12, p. 649, doi. 10.1007/s100380200100

By:

Shimo-onoda, Kazuki;
Tanaka, Toshihiro;
Furushima, Kozo;
Nakajima, Toshiaki;
Toh, Satoshi;
Harata, Seiko;
Yone, Kazunori;
Komiya, Setsuro;
Adachi, Hiroki;
Nakamura, Eiji;
Fujimiya, Hitoshi;
Inoue, Ituro

Publication type:

Article

Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 12, p. 641, doi. 10.1007/s100380200099

By:

Fujiwara, Hiromichi;
Emi, Mitsuru;
Nagai, Hisaki;
Nishimura, Taiji;
Konishi, Noboru;
Kubota, Yoshinobu;
Ichikawa, Tomohiko;
Takahashi, Satoru;
Shuin, Taro;
Habuchi, Tomonori;
Ogawa, Osamu;
Inoue, Katsuki;
Skolnick, Mark H.;
Swensen, Jeff;
Camp, Nicola J.;
Tavtigian, Sean V.

Publication type:

Article

A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 12, p. 635, doi. 10.1007/s100380200098

By:

Jiahui Xia;
Hao Deng;
Yong Feng;
Huali Zhang;
Qian Pan;
Heping Dai;
Zhigao Long;
Beisha Tang;
Hanxiang Deng;
Yong Chen;
Ruifang Zhang;
Duo Zheng;
Yungui He;
Kun Xia

Publication type:

Article