Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

Published 2012 View Full Article

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Title
Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 90, Issue 1, Pages 61-68
Publisher
Elsevier BV
Online
2012-01-13
DOI
10.1016/j.ajhg.2011.11.030

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