Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

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 cl...

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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2013
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3842174/
https://ncbi.nlm.nih.gov/pubmed/23918662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt367
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