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Scholarly Works (2 results)

Article
Peer Reviewed

NMNAT1 mutations cause Leber congenital amaurosis.

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

UC San Francisco Previously Published Works (2012)

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 Network (Re

Article
Peer Reviewed

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

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

UC San Francisco Previously Published Works (2014)

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 investigated us