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SMA patient with SMN1 Exon1 isolated deletion
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创建时间：
2023-10-20
相关数据集
Data_Sheet_1_SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.pdf
Background: Spinal muscular atrophy (SMA) linked to chromosome 5q is an inherited progressive neuromuscular disorder with a narrow therapeutic window for optimal treatment. Although genetic testing pr
NIAID Data Ecosystem30
First Moroccan Experience with Digital PCR for SMN1 and SMN2 Copy Number Analysis and Clinical Severity Prediction in Patients with Spinal Muscular Atrophy
This retrospective Moroccan study analyzed 142 samples, including 133 SMA patients and 9 blinded healthy controls. Absolute quantification of SMN1 and SMN2 copy numbers was performed using the QuantS
Zenodo2026-06-16 更新10
First Moroccan Experience with Digital PCR for SMN1 and SMN2 Copy Number Analysis and Clinical Severity Prediction in Patients with Spinal Muscular Atrophy
This retrospective Moroccan study analyzed 142 samples, including 133 SMA patients and 9 blinded healthy controls. Absolute quantification of SMN1 and SMN2 copy numbers was performed using the QuantS
Zenodo2026-06-16 更新20
5q13.2 heterozygous deletion (SMN1/SMN2) verified by MLPA
Capillary electrophoresis pattern of a proband A, proband B and their mother (1x SMN1; 1x SMN2) analysed with SALSA MLPA probemix P060 SMA Carrier. The approximately 50% decrease of peaks SMN1-7 (SMN1
Figshare2021-07-09 更新00
