The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity

The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity

Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by biallelic inactivation of the survival motor neuron 1 (SMN1) gene. With a prevalence of ~1 in 11,000 live births (carrier frequency of ~1:50), SMA is one of the most common severe childhood‐ons...

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Bibliographic Details
Main Authors: Gardenier Ware, Cecelia Miller, Dan Jones, Matthew Avenarius
Format: Article
Language:English
Published: Wiley 2022-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
carrier testing
clinical diagnostics
genetic counseling
population screening
risk‐modifying SNP
spinal muscular atrophy
Online Access:https://doi.org/10.1002/mgg3.1897

Internet

https://doi.org/10.1002/mgg3.1897

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