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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Main Authors: 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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Molecular Vision 2010
Ábhair:
Research Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2862243/
https://ncbi.nlm.nih.gov/pubmed/20454696
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