(Q85407196)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141890%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

Progressive familial intrahepatic cholestasis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141890%20AND%20SRC:MED&resulttype=core&format=json

progressive familial intrahepatic cholestasis

17 February 2020

main subject

0 references

1

Emmanuel Jacquemin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141890%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

publication date

1 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141890%20AND%20SRC:MED&resulttype=core&format=json

Clinics and research in hepatology and gastroenterology

17 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141890%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

volume

36 Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141890%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

page(s)

S26-35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141890%20AND%20SRC:MED&resulttype=core&format=json

Progressive familial intrahepatic cholestasis

17 February 2020

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Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

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Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11

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Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing

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A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.

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7 January 2021

Prenatal molecular diagnosis of inherited cholestatic diseases

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7 January 2021

Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations

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7 January 2021

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

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

10.1016/S2210-7401(12)70018-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141890%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference