Exome Sequencing Allows for Rapid Gene Identification in a Charcot-Marie-Tooth Family

OBJECTIVE: Charcot-Marie-Tooth (CMT) disease comprises a large number of genetically distinct forms of inherited peripheral neuropathies. The relative uniform phenotypes in many patients with CMT make it difficult to decide which of the over 35 known CMT genes are affected in a given patient. Geneti...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Montenegro, Gladys, Powell, Eric, Huang, Jia, Speziani, Fiorella, Edwards, Yvonne J.K., Beecham, Gary, Hulme, William, Siskind, Carly, Vance, Jeffery, Shy, Michael, Züchner, Stephan
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2011
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3066289/
https://ncbi.nlm.nih.gov/pubmed/21254193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.22235
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