(Q33677888)

28 July 2017

Locus heterogeneity in progressive familial intrahepatic cholestasis (English)

1 reference

progressive familial intrahepatic cholestasis

28 July 2017

0 references

1 reference

S S Strautnieks

1

1 reference

28 July 2017

A F Kagalwalla

2

1 reference

28 July 2017

M S Tanner

3

1 reference

28 July 2017

R M Gardiner

4

1 reference

28 July 2017

R J Thompson

5

1 reference

28 July 2017

language of work or name

English

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publication date

1 October 1996

1 reference

28 July 2017

4

1 reference

Journal of Medical Genetics

inferred from page(s)

published in

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28 July 2017

33

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28 July 2017

10

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28 July 2017

833-836

1 reference

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050762

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050762

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050762

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050762

Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050762

Pericanalicular hepatocytic and bile ductular microfilaments in cholestasis in man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050762

Taurocholate transport by rat liver canalicular membrane vesicles. Evidence for the presence of an Na+-independent transport system

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050762

The transport of bile acids in liver cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050762

Functional expression cloning and characterization of the hepatocyte Na+/bile acid cotransport system

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050762

FGFR2 mutations in Pfeiffer syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050762

Fatal familial cholestatic syndrome in Greenland Eskimo children

30 October 2018

1 reference

12 December 2020

Normal serum gamma-glutamyl-transpeptidase activity identifies groups of infants with idiopathic cholestasis with poor prognosis

1 reference

12 December 2020

A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency

1 reference

12 December 2020

Severe familial cholestasis in North American Indian children: a clinical model of microfilament dysfunction?

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.10.833

1 reference

28 July 2017

1 reference

28 July 2017

1 reference