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http://purl.uniprot.org/citations/21514256http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21514256http://www.w3.org/2000/01/rdf-schema#comment"

Background

Defects in ABCB4 have been found to cause progressive familial intrahepatic cholestasis type 3. Liver histology is important, but not specific, for diagnosis. Genotyping is conclusive.

Aim

To determine the pathogenetic role of two novel ABCB4 mutations in two unrelated children from North Africa and South Asia.

Methods

In both children liver histology showed extensive ductular reaction with portal and periportal fibrosis. Immunohistochemical analysis displayed absence of MDR3 protein expression at the canalicular pole. Genotype analysis was performed.

Results

Genotyping revealed two novel mutations in ABCB4: the c.1783 C>T (p.R595X) mutation in exon 15 was detected in compound heterozygosity with the c.937_992 in/del in exon 9 in one case, whereas the homozygous p.R595X mutation was recognized in the second child.

Conclusions

Two novel loss-of-function mutations have been identified. Progressive familial intrahepatic cholestasis type 3 has a worldwide distribution and genetic analyses are conclusive for correct diagnosis."xsd:string
http://purl.uniprot.org/citations/21514256http://purl.org/dc/terms/identifier"doi:10.1016/j.dld.2011.03.004"xsd:string
http://purl.uniprot.org/citations/21514256http://purl.uniprot.org/core/author"Santorelli F.M."xsd:string
http://purl.uniprot.org/citations/21514256http://purl.uniprot.org/core/author"Bellacchio E."xsd:string
http://purl.uniprot.org/citations/21514256http://purl.uniprot.org/core/author"Francalanci P."xsd:string
http://purl.uniprot.org/citations/21514256http://purl.uniprot.org/core/author"Di Rocco M."xsd:string
http://purl.uniprot.org/citations/21514256http://purl.uniprot.org/core/author"Candusso M."xsd:string
http://purl.uniprot.org/citations/21514256http://purl.uniprot.org/core/author"Callea F."xsd:string
http://purl.uniprot.org/citations/21514256http://purl.uniprot.org/core/author"Giovannoni I."xsd:string
http://purl.uniprot.org/citations/21514256http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/21514256http://purl.uniprot.org/core/name"Dig Liver Dis"xsd:string
http://purl.uniprot.org/citations/21514256http://purl.uniprot.org/core/pages"567-570"xsd:string
http://purl.uniprot.org/citations/21514256http://purl.uniprot.org/core/title"Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3."xsd:string
http://purl.uniprot.org/citations/21514256http://purl.uniprot.org/core/volume"43"xsd:string
http://purl.uniprot.org/citations/21514256http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/21514256
http://purl.uniprot.org/citations/21514256http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/21514256
http://purl.uniprot.org/uniprot/#_Q9BSN7-mappedCitation-21514256http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/21514256
http://purl.uniprot.org/uniprot/Q9BSN7http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/21514256