Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.

Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.

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http://www.wikidata.org/entity/Q48327884
Liver transplantation and the management of progressive familial intrahepatic cholestasis in childrenFunctional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical ChaperonesMolecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile saltsCurrent and future therapies for inherited cholestatic liver diseases.A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.MDR3 mutation analysis: A step closer to precision medicine.ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.Genetic profiling of children with advanced cholestatic liver disease.Embryonic cholecystitis and defective gallbladder contraction in the Sox17-haploinsufficient mouse model of biliary atresia.Liver transplantation for decompensated liver cirrhosis caused by progressive familial intrahepatic cholestasis type 3: A case report.Alterations in Intestinal Microbiota Lead to Production of Interleukin 17 by Intrahepatic γδ T-cell Receptor-positive Cells and Pathogenesis of Cholestatic Liver Disease.A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.Heterozygous ABCB4 mutations in children with cholestatic liver disease.Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.
P2860

Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.

Item
http://www.wikidata.org/entity/Q48327884
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
@wuu
2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
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2014年學術文章
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2014年學術文章
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name
Functional analysis of ABCB4 m ...... ree of MDR3 floppase activity.
@en
Functional analysis of ABCB4 m ...... ree of MDR3 floppase activity.
@nl
type
label
Functional analysis of ABCB4 m ...... ree of MDR3 floppase activity.
@en
Functional analysis of ABCB4 m ...... ree of MDR3 floppase activity.
@nl
prefLabel
Functional analysis of ABCB4 m ...... ree of MDR3 floppase activity.
@en
Functional analysis of ABCB4 m ...... ree of MDR3 floppase activity.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
Functional analysis of ABCB4 m ...... gree of MDR3 floppase activity
@en
P2093
P2860
P304
P31
P356
10.1136/GUTJNL-2014-306896
P407
P433
P478
P50
P577
P5875
P698
P921