A new line method; A direct test in spinal muscular atrophy screening for DBS

A new line method; A direct test in spinal muscular atrophy screening for DBS

Abstract Background Nucleic acid‐based assays provide an opportunity to screen for genetically encoded diseases like spinal muscular atrophy (SMA), before the onset of symptoms. Nowadays, such assays could be easily utilized as high‐throughputs in SMA to detect a homozygous deletion of exon 7 of the...

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Bibliographic Details
Main Authors: Ayhan Kubar, Sehime Gülsüm Temel, Serdar Beken, Gizem Onder, Ozden Hatirnaz, Ayse Korkmaz, Yasemin Alanay, Ugur Ozbek, Sebnem Ozemri Sag, Mahmut Cerkez Ergoren, Elif Kubar, Candan Zeynep Sonmezalp, Ozlem Doğan
Format: Article
Language:English
Published: Wiley 2023-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
DBS
direct test
newborn screening
SMA
Online Access:https://doi.org/10.1002/mgg3.2270

Internet

https://doi.org/10.1002/mgg3.2270

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