Articles with "smn alleles" as a keyword



Conditional deletion of SMN in cell culture identifies functional SMN alleles.

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Published in 2020 at "Human molecular genetics"

DOI: 10.1093/hmg/ddaa229

Abstract: Spinal muscular atrophy is caused by mutation or deletion of SMN1 and retention of SMN2 leading to SMN protein deficiency. We developed an immortalized mouse embryonic fibroblast (iMEF) line in which full-length wild-type Smn (flwt-Smn)… read more here.

Keywords: flwt smn; smn; deletion; cell ... See more keywords