Works matching IS 14345161 AND DT 2001 AND VI 46 AND IP 10

Results: 10

Identification of GFAT1-L, a novel splice variant of human glutamine: fructose-6-phosphate amidotransferase (GFAT1) that is expressed abundantly in skeletal muscle.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 10, p. 566, doi. 10.1007/s100380170022

By:

Niimi, M.;
Ogawara, T.;
Yamashita, T.;
Yamamoto, Y.;
Ueyama, A.;
Kambe, T.;
Okamoto, T.;
Ban, T.;
Tamanoi, H.;
Ozaki, K.;
Fujiwara, T.;
Fukui, H.;
Takahashi, E.;
Kyushiki, H.;
Tanigami, A.

Publication type:

Article

Characterization of genomic rearrangements of the α[sub 1] -acid glycoprotein/orosomucoid gene in Ghanaians.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 10, p. 572, doi. 10.1007/s100380170023

By:

Yuasa, I.;
Nakamura, H.;
Henke, L.;
Henke, J.;
Nakagawa, M.;
Irizawa, Y.;
Umetsu, K.

Publication type:

Article

Linkage disequilibrium and haplotype analysis among four novel single-nucleotide polymorphisms in the human leukemia inhibitory factor (LIF) gene.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 10, p. 557, doi. 10.1007/s100380170020

By:

Ishida, R.;
Ezura, Y.;
Iwasaki, H.;
Nakazawa, I.;
Kajita, M.;
Kodaira, M.;
Ito, H.;
Emi, M.

Publication type:

Article

Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 10, p. 560

By:

Chávez, B.;
Méndez, J. P.;
Ulloa-Aguirre, A.;
Larrea, F.;
Vilchis, F.

Publication type:

Article

The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 10, p. 583, doi. 10.1007/s100380170025

By:

Druck, T.;
Podolski, J.;
Byrski, T.;
Wyrwicz, L.;
Zajaczek, S.;
Kata, G.;
Borowka, A.;
Lubinski, J.;
Huebner, K.

Publication type:

Article

Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 10, p. 579, doi. 10.1007/s100380170024

By:

Shiroma, N.;
Kanazawa, N.;
Izumi, M.;
Sugai, K.;
Fukumizu, M.;
Sasaki, M.;
Hanaoka, S.;
Kaga, M.;
Tsujino, S.

Publication type:

Article

Catalog of 46 single-nucleotide polymorphisms (SNPs) in the microsomal glutathione S-transferase 1 (MGST1) gene.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 10, p. 590, doi. 10.1007/s100380170026

By:

Iida, A.;
Saito, S.;
Sekine, A.;
Harigae, S.;
Osawa, S.;
Mishima, C.;
Kondo, K.;
Kitamura, Y.;
Nakamura, Y.

Publication type:

Article

Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 10, p. 595, doi. 10.1007/s100380170027

By:

Nagata, H.;
Kumahara, K.;
Tomemori, T.;
Arimoto, Y.;
Isoyama, K.;
Yoshida, K.;
Konno, A.

Publication type:

Article

Germline transmission of a transferred human chromosome 21 fragment in transchromosomal mice.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 10, p. 600, doi. 10.1007/s100380170028

By:

Kazuki, Y.;
Shinohara, T.;
Tomizuka, K.;
Katoh, M.;
Ohguma, A.;
Ishida, I.;
Oshimura, M.

Publication type:

Article

High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 10, p. 604, doi. 10.1007/s100380170029

By:

Iida, A.;
Ohnishi, Y.;
Ozaki, K.;
Ariji, Y.;
Nakamura, Y.;
Tanaka, T.

Publication type:

Article