Article
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.
Human mutation - 1 Mar 2018
Besse Whitney, Choi Jungmin, Ahram Dina, Mane Shrikant, Sanna-Cherchi Simone, Torres Vicente, Somlo Stefan
Abstract excerpt
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 five affected siblings for which no loss-of-function variants were identified by whole exome sequencing analysis. SNP genotyping and linkage analysis narrowed the candidate regions to ∼8%...
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