Cone-rod dystrophy and a frameshift mutation in the PROM1 gene

PURPOSE: To identify the genetic cause underlying autosomal recessive cone-rod dystrophy (CORD) and high myopia. METHODS: Nine members of a consanguineous Arab family were clinically examined and were given fluorescein angiography (FA), biometry, and full field electroretinogram (ERG) testing. Blood...

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Hlavní autoři: Pras, Eran, Abu, Almogit, Rotenstreich, Ygal, Avni, Isaac, Reish, Orit, Morad, Yair, Reznik-Wolf, Haike, Pras, Elon
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2009
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2732717/
https://ncbi.nlm.nih.gov/pubmed/19718270
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