Open AccessA novel PKHD1 mutation identified in a family affected by ARPKD Ling Hou, Yue Du, Chengguang Zhao, Yubin Wu
Author(s) -
Ling Hou,
Yue Du,
Chengguang Zhao,
Yao Wu
Publication year - 2018
Publication title -
journal of pediatric diseases
Language(s) - English
Resource type - Journals
ISSN - 2574-5603
DOI - 10.24294/jpedd.v2i1.177
Subject(s) - autosomal recessive polycystic kidney disease , sanger sequencing , mutation , compound heterozygosity , genetics , biology , gene mutation , gene , exon , microbiology and biotechnology , medicine , polycystic kidney disease , kidney