X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15

X-linked cone-rod dystrophy (COD1) is a retinal disease that primarily affects the cone photoreceptors; the disease was originally mapped to a limited region of Xp11.4. We evaluated the three families from our original study with new markers and clinically reassessed all key recombinants; we determi...

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Main Authors: Demirci, F. Yesim K., Rigatti, Brian W., Wen, Gaiping, Radak, Amy L., Mah, Tammy S., Baic, Corrine L., Traboulsi, Elias I., Alitalo, Tiina, Ramser, Juliane, Gorin, Michael B.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC379101/
https://ncbi.nlm.nih.gov/pubmed/11857109
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