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Article

Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.

The Journal of pediatrics - 1 Dec 2008

Chen Huey-Ling, Liu Yu-Jung, Su Yi-Ning, Wang Nai-Yu, Wu Shang-Hsin, Ni Yen-Hsuan, Hsu Hong-Yuan, Wu Tzee-Chung, Chang Mei-Hwei

Abstract excerpt

OBJECTIVE: To determine if specific mutations were present in Asian patients with progressive familial intrahepatic cholestasis (PFIC) type 2 caused by defects in bile salt export pump (BSEP), encoded by ABCB11. STUDY DESIGN: A combination of denaturing high-performance liquid chromatography (DHPLC) and direct sequencing was used to screen ABCB11 mutations in 18 Taiwanese patients with low...

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Share to ATP Binding Cassette Transporter, Subfamily B, Member 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholestasis, Intrahepatic

Share to Chromatography, High Pressure Liquid

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Source

Identifiers

PMID: 18692205
DOI: 10.1016/j.jpeds.2008.06.034

Genes

ABCB11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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