TY  - GEN
AU  - Zhao,Jin James
AU  - Halvardson,Jonatan
AU  - Knaus,Alexej
AU  - Georgii-Hemming,Patrik
AU  - Baeck,Peter
AU  - Krawitz,Peter M
AU  - Thuresson,Ann-Charlotte
AU  - Feuk,Lars
TI  - Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function
SN  - 1098-1004
PY  - 2018///0510
KW  - Cerebellar Ataxia
KW  - genetics
KW  - Cerebellum
KW  - abnormalities
KW  - Child
KW  - Child, Preschool
KW  - Developmental Disabilities
KW  - Female
KW  - Flow Cytometry
KW  - Gene Expression
KW  - Glycosylphosphatidylinositols
KW  - chemistry
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Membrane Proteins
KW  - Nervous System Malformations
KW  - Pedigree
KW  - Phosphotransferases (Alcohol Group Acceptor)
KW  - Seizures
KW  - Siblings
KW  - Exome Sequencing
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.23268
ER  -