Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays

Author:

den Hollander Anneke I.1,Lopez Irma2,Yzer Suzanne3,Zonneveld Marijke N.1,Janssen Irene M.1,Strom Tim M.4,Hehir-Kwa Jayne Y.1,Veltman Joris A.1,Arends Maarten L.1,Meitinger Thomas4,Musarella Maria A.5,van den Born L. Ingeborgh3,Fishman Gerald A.6,Maumenee Irene H.7,Rohrschneider Klaus8,Cremers Frans P. M.1,Koenekoop Robert K.2

Affiliation:

1. From the Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands; the

2. McGill Ocular Genetics Center, McGill University Health Center, Montreal, Quebec, Canada;

3. The Rotterdam Eye Hospital, Rotterdam, The Netherlands; the

4. Institute of Human Genetics, German Science Foundation National Research Center for Environment and Health, Munich-Neuherberg, Germany; the5Institute of Human Genetics, Technical University, Munich, Germany; the

5. Department of Ophthalmology, State University of New York, New York; the

6. Department of Ophthalmology, University of Illinois at Chicago, Chicago, Illinois; the

7. Wilmer Eye Institute, John Hopkins University, Baltimore, Maryland; and the

8. Department of Ophthalmology, University of Heidelberg, Heidelberg, Germany.

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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