A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity

Autor: Moore, Anthony, Borman, AD, Pearce, LR, Mackay, DS, Nagel-Wolfrum, K, Davidson, AE, Henderson, R, Garg, S, Waseem, NH, Webster, AR, Plagnol, V

Publikováno v: Moore, Anthony; Borman, AD; Pearce, LR; Mackay, DS; Nagel-Wolfrum, K; Davidson, AE; et al.(2014). A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/2cs25499

Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investiga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::26c428c64b7c5515a2ee159305d7bf77
http://www.escholarship.org/uc/item/2cs25499

NMNAT1 mutations cause Leber congenital amaurosis

Autor: Moore, Anthony, Falk, MJ, Zhang, Q, Nakamaru-Ogiso, E, Kannabiran, C, Fonseca-Kelly, Z, Chakarova, C, Audo, I, Mackay, DS, Zeitz, C, Borman, AD

Publikováno v: Moore, Anthony; Falk, MJ; Zhang, Q; Nakamaru-Ogiso, E; Kannabiran, C; Fonseca-Kelly, Z; et al.(2012). NMNAT1 mutations cause Leber congenital amaurosis.. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/4s72p55h

Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss(1,2). Two-thirds of LCA cases are caused by mutations in 17 known disease-associated genes(3) (Retinal Information Netwo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::90115e6766345eb0f2a6f8d14b55659a
http://www.escholarship.org/uc/item/4s72p55h

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