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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Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2012
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3365133/
https://ncbi.nlm.nih.gov/pubmed/22665969
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