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Mild Crigler-Najjar Syndrome with Progressive Liver Disease-A Multicenter Retrospective Cohort Study.
Children (Basel). 2023 Aug 22;10(9):1431. doi: 10.3390/children10091431.
Children (Basel). 2023.
PMID: 37761392
Free PMC article.
SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.
Holt-Danborg L, Vodopiutz J, Nonboe AW, De Laffolie J, Skovbjerg S, Wolters VM, Müller T, Hetzer B, Querfurt A, Zimmer KP, Jensen JK, Entenmann A, Heinz-Erian P, Vogel LK, Janecke AR.
Holt-Danborg L, et al. Among authors: querfurt a.
Hum Mol Genet. 2019 Mar 1;28(5):828-841. doi: 10.1093/hmg/ddy394.
Hum Mol Genet. 2019.
PMID: 30445423
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