Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss-Reference-Cited by-同舟云学术

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss

Published:2018-03-25 Issue:4 Volume:176 Page:945-950
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

DeMille Desiree¹^ORCID,Carlston Colleen M.¹²^ORCID,Tam Oliver H.¹,Palumbos Janice C.³,Stalker Heather J.⁴,Mao Rong¹²,Zori Roberto T.⁴,Viskochil David H.³,Park Albert H.⁵,Carey John C.³^ORCID

Affiliation:

1. ARUP Institute for Clinical and Experimental PathologySalt Lake City Utah

2. Department of PathologyUniversity of UtahSalt Lake City Utah

3. Department of Pediatrics, Division of Medical GeneticsUniversity of UtahSalt Lake City Utah

4. Division of Pediatric Genetics and MetabolismUniversity of FloridaGainesville Florida

5. Division of Otolaryngology – Head and Neck SurgeryUniversity of UtahSalt Lake City Utah

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38648

Reference29 articles.

1. Phenotype/Genotype Correlations in a DFNB1 Cohort With Ethnical Diversity

2. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

3. SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

4. Connections with Connexins: the Molecular Basis of Direct Intercellular Signaling

5. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

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