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Title of Journal: World J Pediatr

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Abbravation: World Journal of Pediatrics

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SP Children’s Hospital, Zhejiang University School of Medicine

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DOI

10.1016/0042-6989(95)90089-6

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ISSN

1867-0687

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A Chinese girl molecularly diagnosed with Alagille

Authors: FuBang Li Jie Chen JinDan Yu Hui Gao Ming Qi
Publish Date: 2010/08/13
Volume: 6, Issue: 3, Pages: 278-280
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Abstract

A 28monthold Chinese girl with congenital heart disease and jaundice was diagnosed with Alagille syndrome by liver biopsy showing a paucity of the intrahepatic bile ducts Variants of the JAG1 gene were detected by DNA sequencing in the patient and her unaffected fatherA heterozygous missense mutation was identified in exon 2 of the JAG1 gene in the proband but not in exon 2 4 6 9 17 23 24 by DNA sequencing in her father The mutation G→T change was seen at position 133 in the cDNA sequence c133 G→T causing a substitution of a leucine for a valine V45L residue in the N terminus between signal peptide and DSL domain of the Notch ligand This mutation however was absent in her father


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