171 A heterozygous mutation in GJB2 (Connexin 26; F142L)...

171 A heterozygous mutation in GJB2 (Connexin 26; F142L) associated with deafness and recurrent skin rash has connexin trafficking deficiencies

Alboulshi, A., Lovgren, M., Terron-Kwiatowski, A., Baty, D., Zamiri, M., Waters, A., Martin, P.E.
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Volume:
136
Language:
english
Journal:
Journal of Investigative Dermatology
DOI:
10.1016/j.jid.2016.06.189
Date:
September, 2016
File:
PDF, 53 KB
english, 2016
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