Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 16

Results: 11

Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 16, p. 1797, doi. 10.1093/hmg/11.16.1797

By:

Varlamov, Dmitry A.;
Kudin, Alexei P.;
Vielhaber, Stefan;
Schröder, Rolf;
Sassen, Robert;
Becker, Albert;
Kunz, Dagmar;
Haug, Karsten;
Rebstock, Johannes;
Heils, Armin;
Elger, Christian E.;
Kunz, Wolfram S.

Publication type:

Article

A structural approach to understanding the iron-binding properties of phylogenetically different frataxins.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 16, p. 1865, doi. 10.1093/hmg/11.16.1865

By:

Adinolfi, S.;
Trifuoggi, M.;
Politou, A. S.;
Martin, S.;
Pastore, A.

Publication type:

Article

Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 16, p. 1887, doi. 10.1093/hmg/11.16.1887

By:

Mitchem, Kristina L.;
Hibbard, Ellen;
Beyer, Lisa A.;
Bosom, Ken;
Dootz, Gary A.;
Dolan, David F.;
Johnson, Kenneth R.;
Raphael, Yehoash;
Kohrman, David C.

Publication type:

Article

Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 16, p. 1845

By:

Wu, Guanqing;
Tian, Xin;
Nishimura, Sayoko;
Markowitz, Glen S.;
D'Agati, Vivette;
Hoon Park, Jong;
Yao, Lili;
Li, Li;
Geng, Lin;
Zhao, Hongyu;
Edelmann, Winfried;
Somlo, Stefan

Publication type:

Article

Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 16, p. 1835, doi. 10.1093/hmg/11.16.1835

By:

Chen, Xin Jie

Publication type:

Article

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 16, p. 1823, doi. 10.1093/hmg/11.16.1823

By:

Sidjanin, Duska J.;
Lowe, Jennifer K.;
McElwee, John L.;
Milne, Bruce S.;
Phippen, Taryn M.;
Sargan, David R.;
Aguirre, Gustavo D.;
Acland, Gregory M.;
Ostrander, Elaine A.

Publication type:

Article

Experimental analysis of the annotation of promoters in the public database.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 16, p. 1817, doi. 10.1093/hmg/11.16.1817

By:

Coleman, Sharon L.;
Buckland, Paul R.;
Hoogendoorn, Bastiaan;
Guy, Carol;
Smith, Kaye;
O'Donovan, Michael C.

Publication type:

Article

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 16, p. 1879, doi. 10.1093/hmg/11.16.1879

By:

Kameya, Shuhei;
Hawes, Norman L.;
Chang, Bo;
Heckenlively, John R.;
Naggert, Jürgen K.;
Nishina, Patsy M.

Publication type:

Article

Bleomycin hydrolase and a genetic locus within the MHC affect risk for pulmonary fibrosis in mice.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 16, p. 1855, doi. 10.1093/hmg/11.16.1855

By:

Haston, Christina K.;
Wang, Min;
Dejournett, Robert E.;
Zhou, Xinhui;
Ni, Dan;
Gu, Xiangjun;
King, Terri M.;
Weil, Michael M.;
Newman, Robert A.;
Amos, Christopher I.;
Travis, Elizabeth L.

Publication type:

Article

Spectrin-like repeats from dystrophin and α-actinin-2 are not functionally interchangeable.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 16, p. 1807, doi. 10.1093/hmg/11.16.1807

By:

Harper, Scott Q.;
Crawford, Robert W.;
DelloRusso, Christiana;
Chamberlain, Jeffrey S.

Publication type:

Article

Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 16, p. 1899, doi. 10.1093/hmg/11.16.1899

By:

Mavlyutov, Timur A.;
Zhao, Haiyan;
Ferreira, Paulo A.

Publication type:

Article