Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism - Schaaf, Christian P; Gonzalez-Garay, Manuel L; Xia, Fan; Potocki, Lorraine; Gripp, Karen W; Zhang, Baili; Peters, Brock A; McElwain, Mark A; Drmanac, Radoje; Beaudet, Arthur L; Caskey, C Thomas; Yang, Yaping (Nature genetics, 2013)
Keywords: 692/308/2056; 692/699/476/1373; Adolescent; Agriculture; Animal Genetics and Genomics; Autism; Autistic Disorder - genetics; Base Sequence; Behavior; Biomedicine; Cancer Research; Charitable foundations; Child; Chromosomes; Chromosomes, Human, Pair 15 - genetics; DNA Copy Number Variations; Exome sequencing; Female; Gene Function; Gene mutations; Genes; Genetic aspects; Genomes; Genomics; Genotype & phenotype; Human Genetics; Humans; Identification and classification; letter; Male; Methods; Mutation; Prader-Willi syndrome; Prader-Willi Syndrome - genetics; Proteins; Proteins - genetics; Sequence Analysis, DNA; Studies; Young Adult