Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mutación de sentido erróneo"'
Autor:
Kristina I. Rother, Wanxia L. Tsai, Qing Zhou, Elaine F. Remmers, Rhina D. Castillo, Yan Huang, Anja Brehm, Raphaela Goldbach-Mansky, Franziska Sotzny, Yin Liu, Robert Wesley, Bernadette Marrero, Peter W. Hildebrand, Helen J. Lachmann, Deborah L. Stone, André Mégarbané, Ebun Omoyinmi, Adriana Almeida de Jesus, Massimo Gadina, Paul A. Brogan, Antonio Torrelo, Adam L Reinhardt, Angel Vera Casano, Dawn Chapelle, G Montealegre, Phil McCoy, Jae Jin Chae, Lela Kardava, Martin Pelletier, Susan Moir, Suvimol Hill, Elke Krüger, Diane E. Brown, Ling Gao, Abraham Zlotogorski, Angelique Biancotto, Jilian Brady, Hanna Kim, Ivona Aksentijevich, Afzal Sheikh, Daniel L. Kastner, Chyi-Chia Richard Lee, Yongqing Chen
Publikováno v:
Journal of Clinical Investigation. 125:4196-4211
Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't;Erratium en J Clin Invest. 2016 Feb 1;126(2):795. doi: 10.1172/JCI86020: https://www.jci.org/articles/view/86020 Autosomal recessive mutations in proteasome subun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84dd172581930722135aed4d91ce961f
https://doi.org/10.1172/jci81260
https://doi.org/10.1172/jci81260
Autor:
Fernanda Moscoso, Uxia Esperón-Moldes, Andrés Ordóñez-Ugalde, Daniel Tettamanti-Miranda, Laura Rodríguez-Pazos, Juan Carlos Ruiz, Ana Vega, Martha Montalván-Suárez, Nora Ugalde-Noritz, Manuel Ginarte, Laura Fachal, Luis Santomé
Publikováno v:
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Molecular Genetics & Genomic Medicine
Servizo Galego de Saúde (SERGAS)
Molecular Genetics & Genomic Medicine
Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4343e7bc2a844acacb0d3fdaf5747dbf
https://doi.org/10.1002/mgg3.608
https://doi.org/10.1002/mgg3.608