Art

J-GLOBAL ID：201802224566040047   Reference number：18A0932103

Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis

進行性新生児胆汁鬱滞に関与するホモ接合性ABCB11変異の臨床表現型と分子解析

Author (12)： IMAGAWA Kazuo (Univ. Tsukuba Hospital, Ibaraki, JPN) ,  IMAGAWA Kazuo (Univ. Toukuba, Ibaraki, JPN) ,  HAYASHI Hisamitsu (Univ. Tokyo, Tokyo, JPN) ,  SABU Yusuke (Univ. Tokyo, Tokyo, JPN) ,  TANIKAWA Ken (Kurume Univ. Hospital, Fukuoka, JPN) ,  FUJISHIRO Jun (Univ. Tokyo, Tokyo, JPN) ,  KAJIKAWA Daigo (Univ. Tsukuba Hospital, Ibaraki, JPN) ,  WADA Hiroki (Univ. Tsukuba Hospital, Ibaraki, JPN) ,  KUDO Toyoichiro (Mito Saiseikai General Hospital, Ibaraki, JPN) ,  KAGE Masayoshi (Kurume Univ. Hospital, Fukuoka, JPN) ,  KUSUHARA Hiroyuki (Univ. Tokyo, Tokyo, JPN) ,  SUMAZAKI Ryo (Univ. Toukuba, Ibaraki, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 63  Issue： 5  Page： 569-577  Publication year： May. 2018 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *newborn infant disease ,...
Semi thesaurus term： ABCB11 ,...

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JST classification (1)： Gynecologic and obstetrical diseases  (GS03000D)

Reference (40)：

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• Davit-Spraul A, et al. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. Hepatology. 2010;51:1645-55. https://doi.org/10.1002/hep.23539.
• de Vree JML, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA. 1998;95:282-7.
• Gonzales E, Spraul A, Jacquemin E. Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2. Eur J Hum Genet. 2014;22. https://doi.org/10.1038/ejhg.2013.187.

Terms in the title (6)： 新生児胆汁鬱滞 ,  ホモ接合性 ,  ABCB11 ,  変異 ,  臨床表現型 ,  分子解析