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Autosomal Recessive Retinitis Pigmentosa and E150K Mutation in the Opsin Gene

Retinitis pigmentosa (RP) is a heterogeneous group of hereditary disorders of the retina caused by mutation in genes of the photoreceptor proteins with an autosomal dominant (adRP), autosomal recessive (arRP), or X-linked pattern of inheritance. Although there are over 100 identified mutations in th...

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Dettagli Bibliografici
Autori principali: Zhu, Li, Imanishi, Yoshikazu, Filipek, Sławomir, Alekseev, Andrei, Jastrzebska, Beata, Sun, Wenyu, Saperstein, David A., Palczewski, Krzysztof
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2006
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1618956/
https://ncbi.nlm.nih.gov/pubmed/16737970
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M602664200
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