Literature DB >> 21851503

Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome.

Kyung M Kim, Gu-Hwan Kim, Young S Park, Han-Wook Yoo.   

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Year:  2011        PMID： 21851503     DOI： 10.1111/j.1442-200X.2011.03418.x

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  3 in total

1.  ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

Authors:  Jian-She Wang; Jing Zhao; Li-Ting Li
Journal:  World J Gastroenterol       Date:  2014-04-28       Impact factor: 5.742

Review 2.  Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

Authors:  Yaoyao Zhou; Junfeng Zhang
Journal:  Ital J Pediatr       Date:  2014-09-20       Impact factor: 2.638

3.  Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.

Authors:  Yoshinori Satomura; Kazuhiko Bessho; Nobutoshi Nawa; Hidehito Kondo; Shogo Ito; Takao Togawa; Masanao Yano; Yuki Yamano; Taisuke Inoue; Miho Fukui; Shinsuke Onuma; Tomoya Fukuoka; Kie Yasuda; Takeshi Kimura; Makiko Tachibana; Taichi Kitaoka; Shin Nabatame; Keiichi Ozono
Journal:  J Med Case Rep       Date:  2022-02-13
  3 in total

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