Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa

PURPOSE: To identify the genetic defects underlying retinitis pigmentosa (RP) in Pakistani families. METHODS: Genome-wide high-density single-nucleotide-polymorphism microarray analysis was performed using the DNA of nine affected individuals from two large families with multiple consanguineous marr...

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Detalles Bibliográficos
Autores principales: Ajmal, Muhammad, Khan, Muhammad Imran, Micheal, Shazia, Ahmed, Waqas, Shah, Ashfa, Venselaar, Hanka, Bokhari, Habib, Azam, Aisha, Waheed, Nadia Khalida, Collin, Rob W.J., den Hollander, Anneke I., Qamar, Raheel, Cremers, Frans P. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365133/
https://www.ncbi.nlm.nih.gov/pubmed/22665969

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