Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing

Newborn screening (NBS) assays for spinal muscular atrophy (SMA) typically use a polymerase chain reaction (PCR) based assay to identify individuals with homozygous deletion in exon 7 of the SMN1 gene. Due to high DNA sequence homology between SMN1 and SMN2, it has previously been difficult to accur...

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Detalles Bibliográficos
Autores principales: Shum, Bennett O. V., Henner, Ilya, Cairns, Anita, Pretorius, Carel, Wilgen, Urs, Barahona, Paulette, Ungerer, Jacobus P. J., Bennett, Glenn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9878289/
https://www.ncbi.nlm.nih.gov/pubmed/36713073
http://dx.doi.org/10.3389/fgene.2023.1095600

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9878289/
https://www.ncbi.nlm.nih.gov/pubmed/36713073
http://dx.doi.org/10.3389/fgene.2023.1095600

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