GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China
β Scribed by Gui-zhi Shi; Lu-xia Gong; Xiao-hu Xu; Wen-ying Nie; Qian Lin; Yi-sheng Qi
- Book ID
- 116524631
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 257 KB
- Volume
- 197
- Category
- Article
- ISSN
- 0378-5955
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Mutations in the GJB2 gene encoding the gap-junction protein connexin 26 have been identified in many patients with childhood hearing impairment (HI). One single mutation, c.35delG, accounts for the majority of mutations in Caucasian patients with HI. In the present study we screened 500 healthy con
Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for ~ 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that e