Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.

Zhang, Da

Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease. [electronic resource] - Chinese medical journal Jul 2012 - 2482-6 p. digital

Publication Type: Case Reports; Journal Article

2542-5641


Adolescent
Exome--genetics
Genetic Predisposition to Disease
Humans
Male
Mutation
Polycystic Kidney, Autosomal Recessive--genetics
Receptors, Cell Surface--genetics