A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability. [electronic resource]
Producer: 20170925Description: 1125-9 p. digitalISSN:- 1476-5578
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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