Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. [electronic resource]
Producer: 20171215Description: 737-44 p. digitalISSN:- 1098-1004
- 3' Untranslated Regions
- Abnormalities, Multiple -- genetics
- Adolescent
- Adult
- Carboxylic Ester Hydrolases
- Cells, Cultured
- Child
- Child, Preschool
- Female
- Genetic Predisposition to Disease
- Humans
- Intellectual Disability -- genetics
- Introns
- Male
- Mutation, Missense
- Pedigree
- Phosphorus Metabolism Disorders -- genetics
- Polymorphism, Single Nucleotide
- RNA, Messenger -- genetics
- Receptors, Cell Surface -- genetics
- Sequence Analysis, DNA -- methods
- Young Adult
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Publication Type: Journal Article
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