Clinical course of cone dystrophy caused by mutations in the RPGR gene

BACKGROUND: Mutations in the RPGR gene predominantly cause rod photoreceptor disorders with a large variability in clinical course. In this report, we describe two families with mutations in this gene and cone involvement. METHODS: We investigated an X-linked cone dystrophy family (1) with 25 affect...

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Bibliografske podrobnosti
Main Authors: Thiadens, Alberta A. H. J., Soerjoesing, Gyan G., Florijn, Ralph J., Tjiam, A. G., den Hollander, Anneke I., van den Born, L. Ingeborgh, Riemslag, Frans C., Bergen, Arthur A. B., Klaver, Caroline C. W.
Format: Artigo
Jezik:Inglês
Izdano: Springer-Verlag 2011
Teme:
Genetics
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3178018/
https://ncbi.nlm.nih.gov/pubmed/21866333
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00417-011-1789-3
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