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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: BlackWell Publishing Ltd 2014
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4303222/
https://ncbi.nlm.nih.gov/pubmed/25614874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.106
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires