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