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The woman presented with a florid, red, spotty and pustular rash over her face, neck and shoulders
mars 2022 a Hamrahl 17, Hs Blindraflagsins, 105 Reykjavk
Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia
Key antibodies used included: anti-FOXO4 (two different clones, ab128908 and sc-373877), anti-StAR, anti-CYP11A1, anti-3-HSD, and anti-Ser15-phospho-p53
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