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

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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Bibliographic Details
Main Authors: Sinem Yalcintepe, Yasemin Karal, Selma Demir, Emine Ikbal Atli, Engin Atli, Damla Eker, Cisem Mail, Drenushe Zhuri, Hazal Sezginer Guler, Hakan Gurkan
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2023-06-01
Series:Global Medical Genetics
Subjects:
spinal muscular atrophy
smn1
smn2
copy number
consanguinity
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1770055

Internet

http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1770055

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