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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...

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Detalles Bibliográficos
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