Výsledky vyhledávání - "Burcin Sanlıdag"

Akademický článek

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

Autor: Gulten Tuncel, Burcin Sanlıdag, Eray Dirik, Tugba Baris, Mahmut Cerkez Ergoren, Sehime Gulsun Temel

Publikováno v: Global Medical Genetics, Vol 10, Iss 03, Pp 240-246 (2023)

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 v

Externí odkaz: https://doaj.org/article/d393add898a843b9b163c7108e2bbea4

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