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Article

Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy.

Journal of genetics and genomics = Yi chuan xue bao - 20 Sept 2016

Ren Yixin, Zhi Xu, Zhu Xiaohui, Huang Jin, Lian Ying, Li Rong, Jin Hongyan, Zhang Yan, Zhang Wenxin, Nie Yanli, Wei Yuan, Liu Zhaohui, Song Donghong, Liu Ping, Qiao Jie, Yan Liying

Abstract excerpt

Conventional PCR methods combined with linkage analysis based on short tandem repeats (STRs) or Karyomapping with single nucleotide polymorphism (SNP) arrays, have been applied to preimplantation genetic diagnosis (PGD) for spinal muscular atrophy (SMA), an autosome recessive disorder. However, it has limitations in SMA diagnosis by Karyomapping, and these methods are unable to distinguish wild-type embryos with...

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PMID: 27599922
DOI: 10.1016/j.jgg.2016.03.011

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PGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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