7 results on '"Knisely, A. S."'
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2. Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
3. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
4. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT
5. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
6. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
7. Mutations in TJP2 cause progressive cholestatic liver disease.
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