Article
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
Human molecular genetics - 20 Dec 2013
Braun Terry A, Mullins Robert F, Wagner Alex H, Andorf Jeaneen L, Johnston Rebecca M, Bakall Benjamin B, Deluca Adam P, Fishman Gerald A, Lam Byron L, Weleber Richard G, Cideciyan Artur V, Jacobson Samuel G, Sheffield Val C, Tucker Budd A, Stone Edwin M
Abstract excerpt
Mutations in ABCA4 cause Stargardt disease and other blinding autosomal recessive retinal disorders. However, sequencing of the complete coding sequence in patients with clinical features of Stargardt disease sometimes fails to detect one or both mutations. For example, among 208 individuals with clear clinical evidence of ABCA4 disease ascertained at a single institution, 28 had only one disease-causing allele...
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