Open AccessA Chinese family of autosomal recessive polycystic kidney disease identified by whole exome sequencing
Author(s) -
Jun Zhang,
Limeng Dai,
Furong Li,
Bo Zhang,
Jinghong Zhao,
Jinbo Cheng
Publication year - 2020
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000020413
Subject(s) - sanger sequencing , proband , autosomal recessive polycystic kidney disease , exome sequencing , medicine , polycystic kidney disease , genetics , autosomal dominant polycystic kidney disease , compound heterozygosity , exome , mutation , pkd1 , disease , bioinformatics , pathology , gene , biology