Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Knaus, Alexej
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. [electronic resource] - Human mutation 08 2016 - 737-44 p. digital
Publication Type: Journal Article
1098-1004
10.1002/humu.23006 doi
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
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. [electronic resource] - Human mutation 08 2016 - 737-44 p. digital
Publication Type: Journal Article
1098-1004
10.1002/humu.23006 doi
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