SNaPshot reveals high mutation and carrier frequencies of 15 common hearing loss mutants in a Chinese newborn cohort

Author:

Chen Y.1,Cao Y.2,Li H.-B.1,Mao J.1,Liu M.-J.1,Liu Y.-H.1,Wang B.-J.1,Jiang D.3,Zhu Q.1,Ding Y.3,Wang W.3,Li H.3,Choy K.W.245

Affiliation:

1. Department of Neotology; Central Lab Suzhou Hospital Affiliated to Nanjing Medical University; Suzhou Jiangsu 215002 China

2. Department of Obstetrics and Gynaecology; The Chinese University of Hong Kong; Hong Kong SAR, China

3. Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University; Suzhou Jiangsu China

4. Utrecht University Joint Genetic Core, School of Biomedical Sciences, The Chinese University of Hong Kong; Hong Kong SAR China

5. Shenzhen Research Institute; The Chinese University of Hong Kong; Shenzhen 518055 China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Newborn hearing screening--a silent revolution;Morton;N Engl J Med,2006

2. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?;Hilgert;Mutat Res,2009

3. Genetic screening of mutation hot-spots for nonsyndromic hearing loss in southern Jiangsu province with SNaPshot;Li;Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2011

4. The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age;Yin;BMC Med Genet,2013

5. Auditory screening concurrent deafness predisposing genes screening in 10,043 neonates in Gansu province, China;Zhang;Int J Pediatr Otorhinolaryngol,2012

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