The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy

We report the frequency, positive rate, and type of mutations in 14 genes (PMP22, GJB1, MPZ, MFN2, SH3TC2, GDAP1, NEFL, LITAF, GARS, HSPB1, FIG4, EGR2, PRX, and RAB7A) associated with Charcot–Marie–Tooth disease (CMT) in a cohort of 17,880 individuals referred to a commercial genetic testing laborat...

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Detalles Bibliográficos
Autores principales: DiVincenzo, Christina, Elzinga, Christopher D, Medeiros, Adam C, Karbassi, Izabela, Jones, Jeremiah R, Evans, Matthew C, Braastad, Corey D, Bishop, Crystal M, Jaremko, Malgorzata, Wang, Zhenyuan, Liaquat, Khalida, Hoffman, Carol A, York, Michelle D, Batish, Sat D, Lupski, James R, Higgins, Joseph J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303222/
https://www.ncbi.nlm.nih.gov/pubmed/25614874
http://dx.doi.org/10.1002/mgg3.106

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303222/
https://www.ncbi.nlm.nih.gov/pubmed/25614874
http://dx.doi.org/10.1002/mgg3.106

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