|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
1
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pubmed:dateCreated |
2005-12-12
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|
pubmed:abstractText |
We describe a PFIC2 patient with a good response to ursodeoxycholic acid for 9 years. We found two novel ABCB11 gene mutations in the patient, i.e. I498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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|
pubmed:month |
Jan
|
|
pubmed:issn |
0168-8278
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|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
44
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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|
pubmed:pagination |
240-2
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|
pubmed:meshHeading |
pubmed-meshheading:16290310-ATP-Binding Cassette Transporters,
pubmed-meshheading:16290310-Adolescent,
pubmed-meshheading:16290310-Cholestasis, Intrahepatic,
pubmed-meshheading:16290310-DNA,
pubmed-meshheading:16290310-Disease Progression,
pubmed-meshheading:16290310-Humans,
pubmed-meshheading:16290310-Male,
pubmed-meshheading:16290310-Mutation,
pubmed-meshheading:16290310-Phenotype,
pubmed-meshheading:16290310-Polymerase Chain Reaction
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|
pubmed:year |
2006
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|
pubmed:articleTitle |
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.
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|
pubmed:affiliation |
Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. ching-wanlam@cuhk.edu.hk
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pubmed:publicationType |
Journal Article,
Case Reports
|
