Mutations in SEC63 cause autosomal dominant polycystic liver disease
Davila S, Furu L, Gharavi AG, Tian X, Onoe T, Qian Q, Li A, Cai Y, Kamath PS, King BF, Azurmendi PJ, Tahvanainen P, Kääriäinen H, Höckerstedt K, Devuyst O, Pirson Y, Martin RS, Lifton RP, Tahvanainen E, Torres VE, Somlo S. Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nature Genetics 2004, 36: 575-577. PMID: 15133510, DOI: 10.1038/ng1357.Peer-Reviewed Original Research