A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.

Figueiredo, T

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