Open AccessMale inheritance of X-linked liver glycogenosis from an undiagnosed maternal grandfather in a Chinese pedigree: a report of two cases
Author(s) -
Li Ping,
Tao Xu,
Qingqing Lu,
Jianqi Liang,
Zhen Zhang,
Yu Fang,
Xiaobing Xie
Publication year - 2021
Publication title -
journal of bio-x research/journal of bio-x research
Language(s) - English
Resource type - Journals
eISSN - 2096-5672
pISSN - 2577-3585
DOI - 10.1097/jbr.0000000000000090
Subject(s) - proband , glycogen storage disease , sanger sequencing , genetic counseling , genetics , phosphorylase kinase , exome sequencing , genetic testing , liver biopsy , liver disease , mutation , medicine , biology , disease , glycogen phosphorylase , biopsy , glycogen , gene