Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2. We performed targeted capture and sequencing of the SMN2, CFTR, and PLS3 genes in 217 SMA patients. We identified a 6.3 kilobase deletion t...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Hum Genet
Main Authors: Ruhno, Corey, McGovern, Vicki L., Avenarius, Matthew R., Snyder, Pamela J., Prior, Thomas W., Nery, Flavia C., Muhtaseb, Abdurrahman, Roggenbuck, Jennifer S., Kissel, John T., Sansone, Valeria A., Siranosian, Jennifer J., Johnstone, Alec J., Nwe, Pann H., Zhang, Ren Z., Swoboda, Kathryn J., Burghes, Arthur H.M.
Format: Artigo
Sprog:Inglês
Udgivet: 2019
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6503527/
https://ncbi.nlm.nih.gov/pubmed/30788592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-01983-0
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker