PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Am J Hum Genet
; 95(1): 96-107, 2014 Jul 03.
Article
in En
| MEDLINE
| ID: mdl-24931394
Full text:
1
Database:
MEDLINE
Main subject:
Phosphoglucomutase
/
Bone Diseases, Developmental
/
Congenital Disorders of Glycosylation
/
Immunologic Deficiency Syndromes
/
Mutation
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Hum Genet
Year:
2014
Type:
Article