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The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method

This study aimed to define the copy numbers of SMN1 and SMN2 genes and the diagnosis rate and carrier frequency of spinal muscular atrophy (SMA) in the Thrace region of Turkey. In this study, the frequency of deletions in exons 7 and 8 in the SMN1 gene and SMN2 copy numbers were investigated. A tota...

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Detalles Bibliográficos
Autores principales:	Yalcintepe, Sinem, Karal, Yasemin, Demir, Selma, Atli, Emine Ikbal, Atli, Engin, Eker, Damla, Mail, Cisem, Zhuri, Drenushe, Guler, Hazal Sezginer, Gurkan, Hakan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Georg Thieme Verlag KG 2023
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10275673/ https://www.ncbi.nlm.nih.gov/pubmed/37332684 http://dx.doi.org/10.1055/s-0043-1770055

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