Literature DB >> 16794582

Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population.

Hajime Nakano, Aoi Nakano, Yuka Toyomaki, Shigeki Ohashi, Ken Harada, Ryuta Moritsugu, Hitoshi Takeda, Akira Kawada, Yoshihiko Mitsuhashi, Katsumi Hanada.   

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Year:  2006        PMID： 16794582     DOI： 10.1038/sj.jid.5700456

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  7 in total

1.  The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria.

Authors:  Tsuyoshi Tahara; Masayoshi Yamamoto; Reiko Akagi; Hideo Harigae; Shigeru Taketani
Journal:  Int J Hematol       Date:  2010-12-04       Impact factor: 2.490

Review 2.  Dominant versus recessive: molecular mechanisms in metabolic disease.

Authors:  Johannes Zschocke
Journal:  J Inherit Metab Dis       Date:  2008-10-21       Impact factor: 4.982

3.  Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.

Authors:  X Schneider-Yin; R Mamet; E I Minder; N Schoenfeld
Journal:  J Inherit Metab Dis       Date:  2008-08-31       Impact factor: 4.982

Review 4.  Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.

Authors:  C Wachnowsky; I Fidai; J A Cowan
Journal:  Metallomics       Date:  2018-01-24       Impact factor: 4.526

5.  The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria.

Authors:  Megumi Mizawa; Teruhiko Makino; Fumina Furukawa; Ryotaro Torai; Hajime Nakano; Daisuke Sawamura; Tadamichi Shimizu
Journal:  JAAD Case Rep       Date:  2017-04-13

6.  Role of phlebotomy in the treatment of liver damage related to erythropoietic porphyria.

Authors:  Satoru Hagiwara; Naoshi Nishida; Hiroshi Ida; Kazuomi Ueshima; Yasunori Minami; Masahiro Takita; Tomoko Aoki; Masahiro Morita; Hirokazu Chishina; Yoriaki Komeda; Akihiro Yoshida; Ah-Mee Park; Masako Sato; Akira Kawada; Hajime Nakano; Hiroshi Nakagawa; Masatoshi Kudo
Journal:  Sci Rep       Date:  2022-04-12       Impact factor: 4.379

Review 7.  Erythropoietic protoporphyria.

Authors:  Mario Lecha; Hervé Puy; Jean-Charles Deybach
Journal:  Orphanet J Rare Dis       Date:  2009-09-10       Impact factor: 4.123
  7 in total

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