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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2012
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3365133/
https://ncbi.nlm.nih.gov/pubmed/22665969
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