Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey

Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by variants in the SMN1 gene, leading to progressive muscle weakness. The carrier frequency of SMN1 gene variants, including variant and copy number variations, is estimated to be around 1 in 50 people, while the global prevalenc...

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Veröffentlicht in:	Journal of community genetics 2024-12, Vol.15 (6), p.665-672
Hauptverfasser:	Celik, Kubra Muge, Kose, Canan Ceylan, Kaya, Derya, Tekin, Koray, Silan, Fatma
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine Copy number Epidemiology Gene Function Gene Therapy Genetic screening Health care Human Genetics Medical personnel Public Health SMN protein Spinal muscular atrophy
Online-Zugang:	Volltext
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