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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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| Publicado no: | Hum Mutat |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| 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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