Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B

Dov Hershkovitz, Hannah Mandel, Akemi Ishida-Yamamoto, Ilana Chefetz, Bayan Hino, Anthony Luder, Margarita Indelman, Reuven Bergman, Eli Sprecher

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43 Scopus citations

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Medicine & Life Sciences