TY  - GEN
AU  - Figueiredo,T
AU  - Melo,U S
AU  - Pessoa,A L S
AU  - Nobrega,P R
AU  - Kitajima,J P
AU  - Rusch,H
AU  - Vaz,F
AU  - Lucato,L T
AU  - Zatz,M
AU  - Kok,F
AU  - Santos,S
TI  - A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability
SN  - 1476-5578
PY  - 2017///0925
KW  - Adult
KW  - Brazil
KW  - Consanguinity
KW  - Exome
KW  - genetics
KW  - Family
KW  - Female
KW  - Genome, Human
KW  - Genotype
KW  - Homozygote
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Pedigree
KW  - Phosphoric Monoester Hydrolases
KW  - Polymorphism, Single Nucleotide
KW  - Sequence Analysis, DNA
KW  - methods
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/mp.2015.150
ER  -