Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
BMC Med Genet
; 16: 77, 2015 Sep 02.
Article
in En
| MEDLINE
| ID: mdl-26329556
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 1
/
Mutagenesis, Insertional
/
Myelin Proteolipid Protein
/
Gene Duplication
/
Pelizaeus-Merzbacher Disease
Limits:
Female
/
Humans
Language:
En
Journal:
BMC Med Genet
Journal subject:
GENETICA MEDICA
Year:
2015
Document type:
Article
Affiliation country:
France
Country of publication:
United kingdom