Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I

Title
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 32, Issue 6, Pages E2211-E2225
Publisher
Wiley
Online
2011-02-26
DOI
10.1002/humu.21481

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