Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Published 2015 View Full Article

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Title
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 97, Issue 3, Pages 483-492
Publisher
Elsevier BV
Online
2015-08-28
DOI
10.1016/j.ajhg.2015.08.001

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