Lessons from Real Life Experience: Importance of In-House Sequencing and Smart Ratio-Based Real-Time PCR Outperform Multiplex Ligation-Dependent Probe Amplification in Prenatal Diagnosis for Spinal Muscular Atrophy: Bench to Bedside Diagnosis

Spinal muscular atrophy (SMA) is a rare, recessively inherited neurodegenerative disorder caused by the presence of pathogenic variants in the SMN gene. As it is the leading inherited cause of infant mortality, identification of SMN gene pathogenic variant carriers is important for diagnostic purpos...

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Detalles Bibliográficos
Autores principales: Tuncel, Gulten, Sanlıdag, Burcin, Dirik, Eray, Baris, Tugba, Ergoren, Mahmut Cerkez, Temel, Sehime Gulsun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10471427/
https://www.ncbi.nlm.nih.gov/pubmed/37663644
http://dx.doi.org/10.1055/s-0043-1774307

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