Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Al Bughaili, Mohammed" or (type exact bookEditor and editor="Al Bughaili, Mohammed") Add to list Journal Article A1 Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E Lin, Inderneel Sahai, Paulina Bahena, Sara L Reichert, Abigail Loh, et al. (2015) AMERICAN JOURNAL OF HUMAN GENETICS. 97(3). p.483-492