Showing 1–8 of 8 results
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Amendments and Corrections |
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Research | | Open
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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 |
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Research |
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
- Sandra S. Strautnieks
- , Laura N. Bull
- , Alexander S. Knisely
- , Samuel A. Kocoshis
- , Niklas Dahl
- , Henrik Arnell
- , Etienne Sokal
- , Karine Dahan
- , Sarah Childs
- , Victor Ling
- , M. Stuart Tanner
- , Amir F. Kagalwalla
- , Antal Németh
- , Joanna Pawlowska
- , Alastair Baker
- , Giorgina Mieli-Vergani
- , Nelson B. Freimer
- , R. Mark Gardiner
- & 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 |
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