Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.
Hum Genome Var
; 3: 16036, 2016.
Article
em En
| MEDLINE
| ID: mdl-27917291
ABSTRACT
To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the α and ß subunits of phosphodiesterase 6 and identified mutations that were absent in control chromosomes. Our data suggest that mutations in PDE6A and PDE6B are responsible for the retinal phenotype in these families.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Hum Genome Var
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Paquistão