Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Published 2014 View Full Article

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Title
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 94, Issue 1, Pages 105-112
Publisher
Elsevier BV
Online
2014-01-03
DOI
10.1016/j.ajhg.2013.11.018

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