Cargando…
Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family
PURPOSE: To investigate the genetic basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous Pakistani family. METHODS: All participating members of family, PKCC074 underwent an ophthalmic examination. Slit-lamp photographs were ascertained for affected individuals that hav...
Autores principales: | Jiao, Xiaodong, Khan, Shahid Y., Kaul, Haiba, Butt, Tariq, Naeem, Muhammad Asif, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6901218/ https://www.ncbi.nlm.nih.gov/pubmed/31815953 http://dx.doi.org/10.1371/journal.pone.0225010 |
Ejemplares similares
-
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
por: Kaul, Haiba, et al.
Publicado: (2010) -
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
por: Yasmeen, Afshan, et al.
Publicado: (2010) -
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31
por: Riazuddin, S. Amer, et al.
Publicado: (2009) -
A new locus for autosomal recessive congenital cataract identified in a Pakistani family
por: Kaul, Haiba, et al.
Publicado: (2010) -
Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa
por: Ali, Shahbaz, et al.
Publicado: (2011)