遇见数据集

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

收藏
Figshare2025-11-12 更新2026-04-08 收录
官方服务:

资源简介:

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).<br>The data were used to confirm homozygous deletions in SMN1 and to determine SMN2 copy number.<br>All procedures were conducted following institutional ethical approval and written informed consent was obtained from participants or their legal guardians.<br>These files support the findings reported in the manuscript <i>“Case Series of Family Members with Spinal Muscular Atrophy and Variable Phenotypes.”</i><br>

创建时间:
2025-11-12
二维码
社区交流群
二维码
科研交流群
商业服务