Works matching IS 14345161 AND DT 2002 AND VI 47 AND IP 7

Results: 9

Strategies for genome-wide association studies: optimization of study designs by the stepwise focusing method.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 7, p. 360, doi. 10.1007/s100380200050

By:

Saito, A.;
Kamatani, N.

Publication type:

Article

Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 7, p. 366, doi. 10.1007/s100380200051

By:

Ishii, J.;
Nagano, M.;
Kujiraoka, T.;
Ishihara, M.;
Egashira, T.;
Takada, D.;
Tsuji, M.;
Hattori, H.;
Emi, M.

Publication type:

Article

Identification of single-nucleotide polymorphisms in the human LPIN1 gene.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 7, p. 370, doi. 10.1007/s100380200052

By:

Cao, H.;
Hegele, R. A.

Publication type:

Article

Homozygous deletion on the chromosomal region 5q12.3 in human lines of small-cell lung cancers.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 7, p. 348, doi. 10.1007/s100380200048

By:

Tamura, K.;
Miwa, W.;
Maruyama, T.;
Sekiya, T.;
Murakami, Y.

Publication type:

Article

Molecular analysis of the transferrin gene in a patient with hereditary hypotransferrinemia.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 7, p. 355, doi. 10.1007/s100380200049

By:

Asada-Senju, M.;
Maeda, T.;
Sakata, T.;
Hayashi, A.;
Suzuki, T.

Publication type:

Article

Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 7, p. 342, doi. 10.1007/s100380200047

By:

Ogawa, E.;
Kanazawa, M.;
Yamamoto, S.;
Ohtsuka, S.;
Ogawa, A.;
Ohtake, A.;
Takayanagi, M.;
Kohno, Y.

Publication type:

Article

Molecular cloning and characterization of a novel human cAMP response element-binding (CREB) gene (CREB4).

Published in:

Journal of Human Genetics, 2002, v. 47, n. 7, p. 373, doi. 10.1007/s100380200053

By:

Cao, G.;
Ni, X.;
Jiang, M.;
Ma, Y.;
Cheng, H.;
Guo, L.;
Ji, C.;
Gu, S.;
Xie, Y.;
Mao, Y.

Publication type:

Article

Web-based detection of genotype errors in pedigree data.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 7, p. 377, doi. 10.1007/s100380200054

By:

Saito, M.;
Saito, A.;
Kamatani, N.

Publication type:

Article

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD).

Published in:

Journal of Human Genetics, 2002, v. 47, n. 7, p. 333, doi. 10.1007/s100380200046

By:

Saheki, T.;
Kobayashi, K.

Publication type:

Article