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A non-coding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family

Expanded mutation detection and novel gene discovery for isolated polycystic liver disease (PCLD) are necessary as 50% of cases do not have identified mutations in the seven published disease genes. We investigated a family with 5 affected siblings for which no loss of function variants were identif...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Besse, Whitney, Choi, Jungmin, Ahram, Dina, Mane, Shrikant, Sanna-Cherchi, Simone, Torres, Vicente, Somlo, Stefan
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5805583/
https://ncbi.nlm.nih.gov/pubmed/29243290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23383
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