Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive fami...
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)
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Publisher
Cham: Springer International Publishing
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Language
English
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Publisher
Cham: Springer International Publishing
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Scope and Contents
Contents
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal-recessive disorder due to mutations in the ATP-binding cassette, subfamily B, member 4 gene (
ABCB4
). ABCB4 is the liver-specific membrane transporter of phosphatidylcholine, a major and exclusive component of mammalian bile. The disease is characterized by early on...
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Full title
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)
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TN_cdi_proquest_miscellaneous_20399227
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_20399227
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5201908
