Cargando…
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness
PURPOSE: This study was undertaken to investigate the causal mutations responsible for autosomal recessive congenital stationary night blindness (CSNB) in consanguineous Pakistani families. METHODS: Two consanguineous families with multiple individuals manifesting symptoms of stationary night blindn...
Autores principales: | Naeem, Muhammad Asif, Gottsch, Alexander D. H., Ullah, Inayat, Khan, Shaheen N., Husnain, Tayyab, Butt, Nadeem H., Qazi, Zaheeruddin A., Akram, Javed, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4636350/ https://www.ncbi.nlm.nih.gov/pubmed/26628857 |
Ejemplares similares
-
Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families
por: Khan, Shahid Y., et al.
Publicado: (2015) -
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
por: Yasmeen, Afshan, et al.
Publicado: (2010) -
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
por: Kaul, Haiba, et al.
Publicado: (2010) -
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy
por: Kabir, Firoz, et al.
Publicado: (2013) -
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases
por: Ullah, Inayat, et al.
Publicado: (2016)