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

The American Journal of Human Genetics - Tập 70 - Trang 1049-1053 - 2002
F. Yesim K. Demirci1,2, Brian W. Rigatti1, Gaiping Wen3, Amy L. Radak2, Tammy S. Mah1,2, Corrine L. Baic1, Elias I. Traboulsi4, Tiina Alitalo5, Juliane Ramser6, Michael B. Gorin2
1Departments of Ophthalmology, University of Pittsburgh, Pittsburgh
2Departments of Human Genetics, University of Pittsburgh, Pittsburgh
3Department of Genome Analysis, Institute of Molecular Biotechnology, Jena, Germany
4Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland
5Department of Obstetrics/Gynecology, Helsinki University Hospital, Helsinki
6Department of Medical Genetics, Ludwig-Maximilians-University, Munich

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The American Journal of Human Genetics

Tập 70

1049-1053

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