Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3

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Genetic diseases that predispose to early liver cirrhosis.

P2860

Q38240870-5C46F02A-A2A9-4A17-8299-7159690D5572

P2860

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3

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http://www.wikidata.org/entity/Q37636752

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 04 September 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3

@en

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3.

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Item

label

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3

@en

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3.

@nl

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Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3

@en

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3.

@nl

P1476

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3

@en

P2093

Anne Spraul

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Emmanuel Gonzales

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis

The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood

MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis

Effects of cellular, chemical, and pharmacological chaperones on the rescue of a trafficking-defective mutant of the ATP-binding cassette transporter proteins ABCB1/ABCB4.

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.

The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.

Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future?

A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.

Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

P2888

ejhg.2013.188

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scholarly article

P356

10.1038/EJHG.2013.188

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Emmanuel Jacquemin

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2013-09-04T00:00:00Z

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256425012

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1004421179

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24002166

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progressive familial intrahepatic cholestasis

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3953914

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Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3

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P2860

P2860

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P31

P356

P433

P478

P50

P577

P5875

P6179

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P2888

P31

P356

P433

P478

P50

P577

P5875

P6179

P698

P921

P932