A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability - Figueiredo, T; Melo, U S; Pessoa, A L S; Nobrega, P R; Kitajima, J P; Rusch, H; Vaz, F; Lucato, L T; Zatz, M; Kok, F; Santos, S (Molecular psychiatry, 2016)
Keywords: 631/208; 631/45; 692/699/476/1333; 82/16; Adult; Behavioral Sciences; Biological Psychology; Biotransformation; Bipolar disorder; Brazil; Consanguinity; Diglycerides; Disease; DNA microarrays; Exome - genetics; Families & family life; Family; Female; Genetic testing; Genome, Human - genetics; Genomes; Genotype; Homozygote; Humans; Impa1 gene; Inbreeding; Influence; Inositol; Inositol trisphosphate; Intellectual disabilities; Intellectual Disability - genetics; Lithium; Male; Medicine; Medicine & Public Health; Mental retardation; Middle Aged; Mutation; myo-Inositol-1 (or 4)-monophosphatase; Neurosciences; Nonsense mutation; original-article; Pedigree; Pharmacotherapy; Phenotypes; Phosphoric Monoester Hydrolases - genetics; Phosphoric Monoester Hydrolases - metabolism; Physiology; Polymorphism, Single Nucleotide - genetics; Psychiatry; Risk factors; Second messengers; Self-care, Health; Sequence Analysis, DNA - methods; Single-nucleotide polymorphism; Software; Stop codon; Brazil; United States--US