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Article

Temperature sensitive SMA-causing point mutations lead to SMN instability, locomotor defects, and premature lethality in <i>Drosophila</i>

2019-11-05

Abstract excerpt

<h4>ABSTRACT</h4> Spinal muscular atrophy (SMA) is the leading genetic cause of death in young children, arising from homozygous deletion or mutation of the SMN1 gene. SMN protein expressed from a paralogous gene, SMN2 , is the primary genetic modifier of SMA; small changes in overall SMN levels cause dramatic changes in disease severity. Thus, deeper insight into mechanisms that regulate SMN protein stability...

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Literature Corpus work
03fe61b1-bc6e-5a5c-907a-248899f14944
DOI
10.1101/832030
Open publication

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Temperature sensitive SMA-causing point mutations lead to SMN instability, locomotor defects, and premature lethality in <i>Drosophila</i>DOI 10.1101/832030
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