Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

We assessed a large consanguineous Pakistani family (PKAB157) segregating early onset low vision problems. Funduscopic and electroretinographic evaluation of affected individuals revealed juvenile cone-rod dystrophy (CRD) with maculopathy. Other clinical symptoms included loss of color discriminatio...

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Publicado en:Eur J Hum Genet
Main Authors: Shaikh, Rehan S, Reuter, Peggy, Sisk, Robert A, Kausar, Tasleem, Shahzad, Mohsin, Maqsood, Muhammad I, Yousif, Ateeq, Ali, Muhammad, Riazuddin, Saima, Wissinger, Bernd, Ahmed, Zubair M
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2015
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4666578/
https://ncbi.nlm.nih.gov/pubmed/25052312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.136
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