Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries

Author:

Jiang YuORCID,Luo Zhenyu,Wang Wenrong,Lu Xingxiu,Xia ZhongMin,Xie Jieqiong,Lu Mei,Wu Lili,Zhou Yulin,Guo Qiwei

Publisher

Elsevier BV

Reference26 articles.

1. Genetics, ACOG committee opinion No. 432: spinal muscular atrophy;Obstet. Gynecol.,2009

2. Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases;Calucho;Neuromuscul. Disord.,2018

3. Assessment of the Diagnostic Accuracy of Laboratory Tests Using Receiver Operating Characteristic Curves; Approved Guideline—Second Edition, CLSI Document EP24-A2,2011

4. Multiplex Ligation-dependent Probe Amplification (MLPA(R)) for the detection of copy number variation in genomic sequences;Eijk-Van Os;Methods Mol. Biol.,2011

5. Robust quantification of the SMN gene copy number by real-time TaqMan PCR;Gomez-Curet;Neurogenetics,2007

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