A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.
Biochim Biophys Acta Mol Basis Dis
; 1863(12): 3303-3312, 2017 12.
Article
in En
| MEDLINE
| ID: mdl-28807751
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ataxia
/
Phosphotransferases (Phosphomutases)
/
Congenital Disorders of Glycosylation
/
Mutation, Missense
/
Plasma Membrane Calcium-Transporting ATPases
Type of study:
Prognostic_studies
Limits:
Child, preschool
/
Humans
/
Male
Language:
En
Journal:
Biochim Biophys Acta Mol Basis Dis
Year:
2017
Document type:
Article
Country of publication:
Netherlands