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Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26)

Retinitis pigmentosa (RP), the main cause of adult blindness, is a genetically heterogeneous disorder characterized by progressive loss of photoreceptors through apoptosis. Up to now, 39 genes and loci have been implicated in nonsyndromic RP, yet the genetic bases of >50% of the cases, particular...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Tuson, Miquel, Marfany, Gemma, Gonzàlez-Duarte, Roser
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The American Society of Human Genetics 2004
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181900/
https://ncbi.nlm.nih.gov/pubmed/14681825
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