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Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

PURPOSE: To assess for γD-crystallin (CRYGD) mutation in 2 Saudi patients with cerulean cataract and in a brother of one of the patients who had coralliform cataract. METHODS: Patients and all of their available relatives underwent ophthalmic examination and subsequent sequencing of the candidate ge...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Khan, Arif O., Aldahmesh, Mohammed A., Ghadhfan, Faisal E., Al-Mesfer, Saleh, Alkuraya, Fowzan S.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Molecular Vision 2009
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2714775/
https://ncbi.nlm.nih.gov/pubmed/19633732
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