A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases

Sci China Life Sci. 2018 Jun;61(6):729-732. doi: 10.1007/s11427-017-9165-2. Epub 2018 Jan 2.

Authors

Hongyang Wang¹, Jing Guan¹, Lan Lan¹, Lan Yu¹, Linyi Xie¹, Xu Liu², Ju Yang¹, Cui Zhao¹, Dayong Wang¹, Qiuju Wang³

Affiliations

¹ Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, 100853, China.
² Beijing Centre for Physical and Chemical Analysis, Beijing, 100089, China.
³ Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, 100853, China. wqcr301@vip.sina.com.

PMID: 29357087
DOI: 10.1007/s11427-017-9165-2

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Actins / genetics*
Child, Preschool
China
DNA Mutational Analysis
Genes, Dominant
Genetic Association Studies
Hearing Loss / genetics*
Hearing Loss / physiopathology
Humans
Male
Mutation
Pedigree

Substances

ACTG1 protein, human
Actins