Works matching IS 14345161 AND DT 2003 AND VI 48 AND IP 11

Results: 10

The apolipoprotein CIII T2854G variants are associated with postprandial triacylglycerol concentrations in normolipidemic Korean men.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 551, doi. 10.1007/s10038-003-0074-7

By:

Sang-Koo Woo, Yoshihiro;
Hyun-Sik Kang, Yoshihiro

Publication type:

Article

Human endogenous retroviruses with transcriptional potential in the brain.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 575, doi. 10.1007/s10038-003-0081-8

By:

Nakamura, Akifumi;
Okazaki, Yuji;
Sugimoto, Jun;
Oda, Takaya;
Jinno, Yoshihiro

Publication type:

Article

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 571, doi. 10.1007/s10038-003-0080-9

By:

Tanaka, Akemi;
Lan Thi Ngcok Hoang, Akemi;
Nishi, Yasuaki;
Maniwa, Satoshi;
Oka, Makio;
Yamano, Tsunekazu

Publication type:

Article

Identification of a novel liver-specific expressed gene, TCP10L, encoding a human leucine zipper protein with transcription inhibition activity.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 556, doi. 10.1007/s10038-003-0075-6

By:

Chen, Zheng;
Yu, Long;
Wu, Hai;
Yu, Jianqiang;
Zhang, Lisha;
Jiang, Daojun;
Ma, Lijie;
Li, Dan;
Zhao, Shouyuan

Publication type:

Article

Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 590, doi. 10.1007/s10038-003-0083-6

By:

Andren, Nuria;
Carreras, Carmen;
Prieto, Félix;
Estivil, Xavier;
Volpini, Victor;
Fillat, Cristina

Publication type:

Article

Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters’ cells and the fibrocytes, as the cause of nonsyndromic hearing loss.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 564, doi. 10.1007/s10038-003-0079-2

By:

Abe, Satoko;
Usami, Shin-ichi;
Nakamura, Yusuke

Publication type:

Article

Structural basis of the GM2 gangliosidosis B variant.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 582, doi. 10.1007/s10038-003-0082-7

By:

Matsuzawa, Fumiko;
Aikawa, Sei-ichi;
Sakuraba, Hitoshi;
Hoang Thi Ngoc Lan, Hitoshi;
Tanaka, Akemi;
Ohno, Kousaku;
Sugimoto, Yuko;
Ninomiya, Haruaki;
Doi, Hirofumi

Publication type:

Article

Power of association test for detecting minor histocompatibility gene causing graft-versus-host disease following bone marrow transplantation.

Published in:

2003

By:

Ohashi, Jun;
Maruya, Etsuko;
Tokunaga, Katsushi;
Saji, Hiroh

Publication type:

Correction Notice

A family with spinal anaplastic ependymoma: evidence of loss of chromosome 22q in tumor.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 598, doi. 10.1007/s10038-003-0078-3

By:

Yokota, Takashi;
Tachizawa, Takayuki;
Fukino, Koichi;
Teramoto, Akira;
Kouno, Jun;
Matsumoto, Koshi;
Emi, Mitsuru

Publication type:

Article

Characterization of six base pair deletion in the putative HNF1-binding site of human PXR promoter.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 594, doi. 10.1007/s10038-003-0076-5

By:

Uno, Yasuhiro;
Sakamoto, Yoshiko;
Yoshida, Kenichi;
Hasegawa, Takashi;
Hasegawa, Yoshinori;
Koshino, Takeshi;
Inoue, Ituro

Publication type:

Article