A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

Spinal muscular atrophy (SMA) is a common autosomal-recessive motor neuron disease caused by the homozygous loss of the SMN1 gene. A nearly identical gene, SMN2, has been shown to decrease the severity of SMA in a dose-dependent manner. However SMN2 is not the sole phenotypic modifier, because there...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Prior, Thomas W., Krainer, Adrian R., Hua, Yimin, Swoboda, Kathryn J., Snyder, Pamela C., Bridgeman, Scott J., Burghes, Arthur H.M., Kissel, John T.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2009
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2771537/
https://ncbi.nlm.nih.gov/pubmed/19716110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.08.002
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker