RFT1-CDG in adult siblings with novel mutations.
Mol Genet Metab
; 107(4): 760-2, 2012 Dec.
Article
in En
| MEDLINE
| ID: mdl-23111317
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Membrane Glycoproteins
/
Congenital Disorders of Glycosylation
/
Siblings
/
Mutation
Type of study:
Diagnostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Mol Genet Metab
Journal subject:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Year:
2012
Document type:
Article
Affiliation country:
Czech Republic