Ontology highlight
ABSTRACT:
SUBMITTER: Besse W
PROVIDER: S-EPMC5805583 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Besse Whitney W Choi Jungmin J Ahram Dina D Mane Shrikant S Sanna-Cherchi Simone S Torres Vicente V Somlo Stefan S
Human mutation 20180124 3
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% of the genome, which included two published PCLD genes in close proximity to each o ...[more]