Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of motor neurons, muscle weakness, and atrophy that leads to infant's death. The duplication of exon 7/8 in the SMN2 gene reduces the clinical severity of disease, and it is defined...

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Principais autores:	Drenushe Zhuri, Hakan Gurkan, Damla Eker, Yasemin Karal, Sinem Yalcintepe, Engin Atli, Selma Demir, Emine Ikbal Atli
格式:	Artigo
語言:	Inglês
出版:	KeAi Communications Co., Ltd. 2022-09-01
叢編:	Global Medical Genetics
主題:	spinal muscular atrophy modifying genes neuromuscular disorder smn1 smn2
在線閱讀:	http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-1751302
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