Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis

Tomoko Uehara, Mamiko Yamada, Shuichiro Umetsu, Hiroshi Nittono, Hisato Suzuki, Tomoo Fujisawa, Toshiki Takenouchi, Ayano Inui, Kenjiro Kosaki

研究成果: Article査読

1 被引用数 (Scopus)

抄録

We identified biallelic pathogenic mutations in the Lipolysis-stimulated lipoprotein receptor (LSR) gene in a patient with infantile intrahepatic cholestasis. We established that mutations in the LSR gene, which encodes a protein which is critical for the formation of tricellular tight junctions in the liver, are a novel cause of pediatric cholestasis.

本文言語English
ページ(範囲)251-254
ページ数4
ジャーナルJournal of Pediatrics
221
DOI
出版ステータスPublished - 2020 6

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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