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Genetic Data from MLPA Analysis in a Consanguineous Iranian Family with Spinal Muscular Atrophy (SMA)

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Figshare2025-11-12 更新2026-04-28 收录
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https://figshare.com/articles/dataset/_b_Genetic_Data_from_MLPA_Analysis_in_a_Consanguineous_Iranian_Family_with_Spinal_Muscular_Atrophy_SMA_b_/30597440
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This dataset includes raw electropherogram files (FSA format) generated by Multiplex Ligation-dependent Probe Amplification (MLPA) analysis of SMN1 and SMN2 genes in three affected members (Patients 7, 8, and 9) of a consanguineous Iranian family with Spinal Muscular Atrophy (SMA).The data were used to confirm homozygous deletions in SMN1 and to determine SMN2 copy number.All procedures were conducted following institutional ethical approval and written informed consent was obtained from participants or their legal guardians.These files support the findings reported in the manuscript “Case Series of Family Members with Spinal Muscular Atrophy and Variable Phenotypes.”
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2025-11-12
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