Open AccessGene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian
Author(s) -
Chen Yao,
Xin Lin,
Qingying Lin,
Yanli Zeng,
Xiaolong Qiu,
Guanghua Liu,
Wenbin Zhu
Publication year - 2021
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.0000000000024161
Subject(s) - missense mutation , propionic acidemia , genetics , exon , proband , sanger sequencing , exon skipping , population , gene , newborn screening , medicine , biology , mutation , alternative splicing , environmental health