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The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 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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Detalles Bibliográficos
Autores principales:	Davidson, Joanne E, Russell, Jacqueline S, Martinez, Noelia Nunez, Mowat, David R, Jones, Kristi J, Kirk, Edwin P, Kariyawasam, Didu, Farrar, Michelle, D’Silva, Arlene
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379112/ https://www.ncbi.nlm.nih.gov/pubmed/37510307 http://dx.doi.org/10.3390/genes14071403

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