A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability. [electronic resource]
- Molecular psychiatry 08 2016
- 1125-9 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1476-5578
10.1038/mp.2015.150 doi
Adult Brazil Consanguinity Exome--genetics Family Female Genome, Human--genetics Genotype Homozygote Humans Intellectual Disability--genetics Male Middle Aged Mutation Pedigree Phosphoric Monoester Hydrolases--genetics Polymorphism, Single Nucleotide--genetics Sequence Analysis, DNA--methods