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Open Access 01-11-2013 | Meeting abstract

OR11-002 - Mutations in MVK cause non-syndromic RP

Authors: AM Siemiatkowska, M Stoffels, K Neveling, A Simon, PM van Hagen, AI den Hollander, FP Cremers, LI van den Born, RW Collin

Published in: Pediatric Rheumatology | Special Issue 1/2013

Excerpt

Retinitis pigmentosa (RP) is a genetically heterogeneous retinal disease. Typically beginning with night blindness, RP is characterized by rod cell degeneration followed by cone cell death, which may ultimately lead to complete blindness. Despite extensive knowledge about genes involved in RP pathogenesis, in several cases the genetic cause remains elusive. …

Title: OR11-002 - Mutations in MVK cause non-syndromic RP
Authors: AM Siemiatkowska
M Stoffels
K Neveling
A Simon
PM van Hagen
AI den Hollander
FP Cremers
LI van den Born
RW Collin
Publication date: 01-11-2013
Publisher: BioMed Central
Published in: Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI: https://doi.org/10.1186/1546-0096-11-S1-A191

At a glance: The STEP trials

Springer Medicine

OR11-002 - Mutations in MVK cause non-syndromic RP

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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