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Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63

Polycystic liver disease (PCLD) is characterized by intralobular bile duct cysts in the liver. It is caused by mutations in PRKCSH, encoding hepatocystin, and SEC63, encoding Sec63p. The main goals of this study were to screen for novel mutations and to analyze mutations for effects on protein struc...

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Detalhes bibliográficos
Main Authors: Waanders, E, Venselaar, H, te Morsche, RHM, de Koning, DB, Kamath, PS, Torres, VE, Somlo, S, Drenth, JPH
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4127811/
https://ncbi.nlm.nih.gov/pubmed/20095989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2009.01353.x
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