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Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis

TUB is the first identified member of the TULP family of four proteins with unknown function. A spontaneous mutation in murine tub causes retinal degeneration, obesity, and deafness. Mutations in another member of the TULP family, TULP1, are a cause of autosomal recessive retinitis pigmentosa (RP)....

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Bibliografiske detaljer
Main Authors: Xi, Quansheng, Pauer, Gayle J.T., Traboulsi, Elias I., Hagstrom, Stephanie A.
Format: Artigo
Sprog:Inglês
Udgivet: 2006
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3023989/
https://ncbi.nlm.nih.gov/pubmed/16643894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2006.02.003
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