TY  - GEN
AU  - Knaus,Alexej
AU  - Awaya,Tomonari
AU  - Helbig,Ingo
AU  - Afawi,Zaid
AU  - Pendziwiat,Manuela
AU  - Abu-Rachma,Jubran
AU  - Thompson,Miles D
AU  - Cole,David E
AU  - Skinner,Steve
AU  - Annese,Fran
AU  - Canham,Natalie
AU  - Schweiger,Michal R
AU  - Robinson,Peter N
AU  - Mundlos,Stefan
AU  - Kinoshita,Taroh
AU  - Munnich,Arnold
AU  - Murakami,Yoshiko
AU  - Horn,Denise
AU  - Krawitz,Peter M
TI  - Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
SN  - 1098-1004
PY  - 2017///1215
KW  - 3' Untranslated Regions
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Carboxylic Ester Hydrolases
KW  - Cells, Cultured
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Intellectual Disability
KW  - Introns
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phosphorus Metabolism Disorders
KW  - Polymorphism, Single Nucleotide
KW  - RNA, Messenger
KW  - Receptors, Cell Surface
KW  - Sequence Analysis, DNA
KW  - methods
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/humu.23006
ER  -