Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.
Clin Genet
; 95(4): 537-539, 2019 04.
Article
in En
| MEDLINE
| ID: mdl-30633340
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Biomarkers
/
Intracellular Signaling Peptides and Proteins
/
Niemann-Pick Disease, Type C
/
Mutation
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
Country/Region as subject:
Africa
Language:
En
Journal:
Clin Genet
Year:
2019
Type:
Article
Affiliation country:
Egypt