LAUSR

SMA mutations in SMN Tudor and C-terminal domains destabilize the protein

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1 Published in 2017 at "Brain and Development"

DOI: 10.1016/j.braindev.2017.03.002

Abstract: BACKGROUND AND PURPOSE Most spinal muscular atrophy (SMA) patients are homozygous for survival of motor neuron 1 gene (SMN1) deletion. However, some SMA patients carry an intragenic SMN1 mutation. Such patients provide a clue to… read more here.

Keywords: smn1; sma patients; mutations smn; smn ... See more keywords