Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14040931
Abstract: Hereditary sensory and autonomic neuropathy type 1 (HSAN1/HSN1) is a peripheral neuropathy most commonly associated with pathogenic variants in the serine palmitoyltransferase complex (SPTLC1, SPTLC2) genes, which are responsible for sphingolipid biosynthesis. Recent reports have… read more here.
Keywords: hsan1; mactel2; type mactel2; telangiectasia type ... See more keywords