(PDF) Recurrent De Novo Mutations Affecting Residue Arg138

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

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2015.08.001

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