Cargando…
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma
PURPOSE: To identify the disease-causing mutations in three consanguineous Pakistani families with multiple members affected by primary congenital glaucoma. METHODS: Blood samples were collected, and DNA was extracted. Linkage analysis for reported primary congenital glaucoma loci was performed usin...
Autores principales: | Firasat, Sabika, Riazuddin, S. Amer, Khan, Shaheen N., Riazuddin, Sheikh |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2579935/ https://www.ncbi.nlm.nih.gov/pubmed/18989382 |
Ejemplares similares
-
Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families
por: Firasat, Sabika, et al.
Publicado: (2008) -
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
por: Rauf, Bushra, et al.
Publicado: (2016) -
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
por: Yasmeen, Afshan, et al.
Publicado: (2010) -
Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma
por: Tehreem, Raeesa, et al.
Publicado: (2022) -
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness
por: Naeem, Muhammad Asif, et al.
Publicado: (2015)