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Deletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy.
The Kobe journal of medical sciences, 2003The SMN1 and NAIP genes are related to the development of spinal muscular atrophy (SMA), which is characterized by degeneration of motor neurons leading to progressive muscular weakness and atrophy. The SMN1 gene is homozygously deleted in most SMA patients, and now recognized as a responsible gene for SMA.
Nguyen Duc Bach +11 more
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Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort
Clinica Chimica ActaIt is crucial to start early treatment in Spinal Muscular Atrophy (SMA) with available drugs to stop the progression of the disease, therefore making SMA screening preferable. This study assessed Quantitative Real-Time Polymerase Chain Reaction (qRT-PCR) compared to Multiplex Ligation-dependent Probe Amplification (MLPA) for detecting Spinal Muscular ...
Murat Gülşen +4 more
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[A study on the conversion between SMN1 and SMN2 genes].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsTo investigate the steady-state mechanism of interconversion between the SMN1 and SMN2 genes in a normal population.Fluorescence PCR capillary electrophoresis was employed to assess gene conversion and copy number variation of SMN1 and SMN2 in a cohort of 1,133 healthy individuals (including 256 males and 877 females) recruited between 2019 and 2023 ...
Qiannan, Guo +4 more
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Determination of SMN1 and SMN2 copy number using TaqMan™ technology
Human Mutation, 2003Thomas Eggermann
exaly