ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome

Peters plus syndrome (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, short stature and brachydactyly, is caused by mutations in the β3-glucosyltransferase (B3GLCT) gene. Protein O-fucosyltransferase 2 (POFUT2) and B3GLCT work sequentially to add...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Holdener, Bernadette C, Percival, Christopher J, Grady, Richard C, Cameron, Daniel C, Berardinelli, Steven J, Zhang, Ao, Neupane, Sanjiv, Takeuchi, Megumi, Jimenez-Vega, Javier C, Uddin, Sardar M Z, Komatsu, David E, Honkanen, Robert, Dubail, Johanne, Apte, Suneel S, Sato, Takashi, Narimatsu, Hisashi, McClain, Steve A, Haltiwanger, Robert S
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6991180/
https://ncbi.nlm.nih.gov/pubmed/31600785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz225
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