Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia

PURPOSE: To identify the genetic defect in two Pakistani families with autosomal recessive achromatopsia. METHODS: Two families (RP26 and RP44) were originally diagnosed with retinal dystrophy based upon their medical history. To localize the causative genes in these families, homozygosity mapping w...

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Hlavní autoři: Azam, Maleeha, Collin, Rob W.J., Shah, Syed Tahir Abbas, Shah, Aftab Ali, Khan, Muhammad Imran, Hussain, Alamdar, Sadeque, Ahmed, Strom, Tim M., Thiadens, Alberta A.H.J., Roosing, Susanne, den Hollander, Anneke I., Cremers, Frans P.M., Qamar, Raheel
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2010
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2862243/
https://ncbi.nlm.nih.gov/pubmed/20454696
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