𝔖 Bobbio Scriptorium
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Connexin Mutations in Skin Disease and Hearing Loss

✍ Scribed by David P. Kelsell; Wei-Li Di; Mark J. Houseman

Book ID
117853561
Publisher
American Society of Human Genetics
Year
2001
Tongue
English
Weight
460 KB
Volume
68
Category
Article
ISSN
0002-9297

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## Abstract The connexins are a family of proteins whose major function is as part of the gap junctions of cell‐to‐cell channels. They are expressed in several tissues including brain, skin, and cochlea. Mutations in connexin genes play a major role in non‐syndromic sensorineural deafness, but have