Homozygosity for the V37IGJB2mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations-Reference-Cited by-同舟云学术

Homozygosity for the V37IGJB2mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations

Published:2013-07-19 Issue:9 Volume:161 Page:2148-2157
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gallant Emily¹,Francey Lauren¹,Tsai Ellen A.²,Berman Micah¹³,Zhao Yaru⁴,Fetting Heather¹,Kaur Maninder¹,Deardorff Matthew A.¹³,Wilkens Alisha¹,Clark Dinah¹,Hakonarson Hakon¹³⁵,Rehm Heidi L.⁶,Krantz Ian D.¹³

Affiliation:

1. Division of Human Genetics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

2. Genomics and Computational Biology Graduate Group; University of Pennsylvania; Philadelphia Pennsylvania

3. Department of Pediatrics; The Perelman School of Medicine, The University of Pennsylvania; Philadelphia Pennsylvania

4. Department of Developmental Pediatrics; The Shengjing Hospital, China Medical University; Shenyang City P.R. China

5. The Center for Applied Genomics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

6. Laboratory for Molecular Medicine; Partners Healthcare Center for Personalized Genetic Medicine; Cambridge Massachusetts

Funder

The Children's Hospital of Philadelphia Institutional Develop Funds

NIH/NIDCD

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36042/fullpdf

Reference31 articles.

1. Prevalent connexin 26 gene (GJB2) mutations in Japanese;Abe;J Med Genet,2000

2. Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss;Bason;Clin Genet,2002

3. Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness;Bruzzone;FEBS Lett,2003

4. A genotype-phenotype correlation for GJB2 (connexin 26) deafness;Cryns;J Med Genet,2004

5. The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children;Dahl;J Med Genet,2006

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