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Published in 2022 at "Pediatric Dermatology"
DOI: 10.1111/pde.15197
Abstract: Enterokinase deficiency (EKD) is a rare autosomal recessive inherited disorder caused by loss‐of‐function mutations of the transmembrane protease serine 15 (TMPRSS15) gene. To date, only 12 cases of EKD have been described in the literature…
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Keywords:
tmprss15 gene;
gene;
enterokinase deficiency;
acrodermatitis enteropathica ... See more keywords