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GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China

✍ 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

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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