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
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2010
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2862243/
https://ncbi.nlm.nih.gov/pubmed/20454696
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