Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

OBJECTIVE: Genetic heterogeneity is common in many neurologic disorders. This is particularly true for the hereditary ataxias where at least 36 disease genes or loci have been described for spinocerebellar ataxia and over 100 genes for neurologic disorders that present primarily with ataxia. Traditi...

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Hauptverfasser: Sailer, Anna, Scholz, Sonja W., Gibbs, J. Raphael, Tucci, Arianna, Johnson, Janel O., Wood, Nicholas W., Plagnol, Vincent, Hummerich, Holger, Ding, Jinhui, Hernandez, Dena, Hardy, John, Federoff, Howard J., Traynor, Bryan J., Singleton, Andrew B., Houlden, Henry
Format: Artigo
Sprache:Inglês
Veröffentlicht: Lippincott Williams & Wilkins 2012
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3390538/
https://ncbi.nlm.nih.gov/pubmed/22675081
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31825f048e
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