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Showing 1–3 of 3 results
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Research |
Mutations in TJP2 cause progressive cholestatic liver disease
- Melissa Sambrotta
- , Sandra Strautnieks
- , Efterpi Papouli
- , Peter Rushton
- , Barnaby E Clark
- , David A Parry
- , Clare V Logan
- , Lucy J Newbury
- , Binita M Kamath
- , Simon Ling
- , Tassos Grammatikopoulos
- , Bart E Wagner
- , John C Magee
- , Ronald J Sokol
- , Giorgina Mieli-Vergani
- , Joshua D Smith
- , Colin A Johnson
- , Patricia McClean
- , Michael A Simpson
- , A S Knisely
- , Laura N Bull
- & Richard J Thompson
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Research |
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
- Paul Gissen
- , Colin A Johnson
- , Neil V Morgan
- , Janneke M Stapelbroek
- , Tim Forshew
- , Wendy N Cooper
- , Patrick J McKiernan
- , Leo W J Klomp
- , Andrew A M Morris
- , James E Wraith
- , Patricia McClean
- , Sally A Lynch
- , Richard J Thompson
- , Bryan Lo
- , Oliver W Quarrell
- , Maja Di Rocco
- , Richard C Trembath
- , Hanna Mandel
- , S Wali
- , Fiona E Karet
- , A S Knisely
- , Roderick H J Houwen
- , Deirdre A Kelly
- & Eamonn R Maher
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Research | | Open
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)
- Dominic Lenz
- , Patricia McClean
- , Aydan Kansu
- , Penelope E Bonnen
- , Giusy Ranucci
- , Christian Thiel
- , Beate K Straub
- , Inga Harting
- , Bader Alhaddad
- , Bianca Dimitrov
- , Urania Kotzaeridou
- , Daniel Wenning
- , Raffaele Iorio
- , Ryan W Himes
- , Zarife Kuloğlu
- , Emma L Blakely
- , Robert W Taylor
- , Thomas Meitinger
- , Stefan Kölker
- , Holger Prokisch
- , Georg F Hoffmann
- , Tobias B Haack
- & Christian Staufner
