Analysis of
10.3785/j.issn.1008-9292.2020.10.04
- Author:
Yaping SHEN
1
;
Kai YAN
2
;
Minyue DONG
2
;
Rulai YANG
1
;
Xinwen HUANG
1
Author Information
1. Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Regional Medical Centre for Children, Hangzhou 310052, China.
2. Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.
- Publication Type:Journal Article
- Keywords:
Combined oxidative phosphorylation deficiency 1;
Congenital, hereditary, and neonatal diseases and abnormalities;
GFM1 gene;
Metabolic acidosis;
Whole exome sequencing
- MeSH:
Fatal Outcome;
Female;
Hepatic Encephalopathy/genetics*;
Humans;
Infant;
Male;
Metabolism, Inborn Errors/genetics*;
Mitochondrial Proteins/genetics*;
Mutation;
Peptide Elongation Factor G/genetics*;
Whole Exome Sequencing
- From:
Journal of Zhejiang University. Medical sciences
2020;49(5):574-580
- CountryChina
- Language:Chinese
