Next generation sequencing-based molecular diagnosis of retinitis pigmentosa : identification of a novel genotype-phenotype correlation and clinical refinements

Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information is invaluable for an accurate clinical diagnosis of RP due to its high genetic and clinical heterogeneity. Using a gene capture panel that cov...

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Bibliographic Details
Published in:Human genetics, Vol. 133, No. 3 (2014), p. 331-45
Main Author: Wang, Feng
Other Involved Persons: Wang, Hui ; Tuan, Han-Fang ; Nguyen, Duy H ; Sun, Vincent ; Keser, Vafa ; Bowne, Sara J ; Sullivan, Lori S ; Luo, Hongrong ; Zhao, Ling ; Wang, Xia ; Zaneveld, Jacques E ; Salvo, Jason S ; Siddiqui, Sorath ; Mao, Louise ; Wheaton, Dianna K ; Birch, David G ; Branham, Kari E ; Heckenlively, John R ; Wen, Cindy ; Flagg, Ken ; Ferreyra, Henry ; Pei, Jacqueline ; Khan, Ayesha ; Ren, Huanan ; Wang, Keqing ; Lopez, Irma ; Qamar, Raheel ; Zenteno, Juan C ; Ayala-Ramirez, Raul ; Buentello-Volante, Beatriz ; Fu, Qing ; Simpson, David A ; Li, Yumei ; Sui, Ruifang ; Silvestri, Giuliana ; Daiger, Stephen P ; Koenekoop, Robert K ; Zhang, Kang ; Chen, Rui
Format: electronic Article
Language:English
ISSN:1432-1203
Item Description:Date Completed 07.04.2014
Date Revised 26.12.2018
published: Print-Electronic
Citation Status MEDLINE
Copyright: From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Physical Description:Online-Ressource
DOI:10.1007/s00439-013-1381-5
Subjects:
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