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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Molecular Vision 2010
विषय:
Research Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2862243/
https://ncbi.nlm.nih.gov/pubmed/20454696
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