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

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Description scientific journal article
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author: Björn Fischer-Zirnsak  David Meierhofer  Graham D Wright  Tomasz Zemojtel  Lihadh Al-Gazali  Stefan Mundlos  Bert Callewaert 

Publication date September 3, 2015
Language English
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