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searching for SPTLC1 2 found (10 total)

alternate case: sPTLC1

Hereditary sensory and autonomic neuropathy type I (5,140 words) [view diff] exact match in snippet view article find links to article

is associated with heterozygous missense mutations in the SPTLC1 gene. The gene encodes SPTLC1 protein, which together with SPTLC2 protein, forms serine

Sensory phenomena (491 words) [view diff] exact match in snippet view article find links to article

StatPearls. PMID 28613516. Nicholson GA, Adam MP, Ardinger HH, et al. (2002). "SPTLC1-Related Hereditary Sensory Neuropathy". GeneReviews. PMID 20301564. Andersen