Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa-Reference-Cited by-同舟云学术

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

Published:2015-09 Issue:3 Volume:97 Page:483-492
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Fischer-Zirnsak Björn,Escande-Beillard Nathalie,Ganesh Jaya,Tan Yu Xuan,Al Bughaili Mohammed,Lin Angela E.,Sahai Inderneel,Bahena Paulina,Reichert Sara L.,Loh Abigail,Wright Graham D.,Liu Jaron,Rahikkala Elisa,Pivnick Eniko K.,Choudhri Asim F.,Krüger Ulrike,Zemojtel Tomasz,van Ravenswaaij-Arts Conny,Mostafavi Roya,Stolte-Dijkstra Irene,Symoens Sofie,Pajunen Leila,Al-Gazali Lihadh,Meierhofer David,Robinson Peter N.,Mundlos Stefan,Villarroel Camilo E.,Byers Peter,Masri Amira,Robertson Stephen P.,Schwarze Ulrike,Callewaert Bert,Reversade Bruno,Kornak Uwe

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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