Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
影响吡咯啉-5-羧酸合成酶 Arg138 残基的复发性从头突变导致常染色体显性遗传性皮肤松弛症的早衰症形式
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.08.001
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