A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa

PURPOSE: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations characterized by progressive loss of photoreceptor cells and RPE functions. More than 70 causative genes are known to be responsible for RP. This study aimed to identify the caus...

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Vydáno v:Mol Vis
Hlavní autoři: Jinda, Worapoj, Poungvarin, Naravat, Taylor, Todd D., Suzuki, Yutaka, Thongnoppakhun, Wanna, Limwongse, Chanin, Lertrit, Patcharee, Suriyaphol, Prapat, Atchaneeyasakul, La-ongsri
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2016
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4842005/
https://ncbi.nlm.nih.gov/pubmed/27122965
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