- Tytuł:
- Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
- Autorzy:
- Źródło:
- European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1689-93. Date of Electronic Publication: 2015 Mar 25.
- Typ publikacji:
- Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Mutation*
Intellectual Disability/*genetics
Membrane Proteins/*genetics
Phosphoric Monoester Hydrolases/*genetics
Vision Disorders/*genetics
Animals ; CHO Cells ; Cell Line, Tumor ; Child ; Cricetinae ; Cricetulus ; Humans ; Intellectual Disability/diagnosis ; Male ; Membrane Proteins/metabolism ; Phosphoinositide Phospholipase C/metabolism ; Phosphoric Monoester Hydrolases/metabolism ; Syndrome ; Vision Disorders/diagnosis ; Visual Perception
Czasopismo naukowe