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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)....

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Xi, Quansheng, Pauer, Gayle J.T., Traboulsi, Elias I., Hagstrom, Stephanie A.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2006
Gaiak:
Sarrera elektronikoa: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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