Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome - Aligianis, Irene A.; Morgan, Neil V.; Mione, Marina; Johnson, Colin A.; Rosser, Elisabeth; Hennekam, Raoul C.; Adams, Gill; Trembath, Richard C.; Pilz, Daniela T.; Stoodley, Neil; Moore, Anthony T.; Wilson, Steve; et al. (American journal of human genetics, 2006)
Keywords: Abnormalities, Multiple - genetics; Biological and medical sciences; Biomedical research; Catalytic Domain; General aspects. Genetic counseling; Genetic disorders; Humans; Medical genetics; Medical sciences; Molecular Sequence Data; Mutation; Mutation, Missense; Proteins; rab3 GTP-Binding Proteins - genetics; RNA polymerase; RNA Splicing; Syndrome; Human; Family study; Genetics; Mutation; Subunit; Syndrome; GTPase activating protein