The Carrier Frequency of Two <i>SMN1</i> Genes in Parents of Symptomatic Children with SMA and the Significance of <i>SMN1</i> Exon 8 in Carriers

The Carrier Frequency of Two <i>SMN1</i> Genes in Parents of Symptomatic Children with SMA and the Significance of <i>SMN1</i> Exon 8 in Carriers

Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic counselling of SMA carriers. This study aims to quantify the va...

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Bibliographic Details
Main Authors: Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene D’Silva
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Genes
Subjects:
spinal muscular atrophy
carrier frequency
silent carrier
reproductive carrier screening
Online Access:https://www.mdpi.com/2073-4425/14/7/1403

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