Literature DB >> 20560964

Identification of TINF2 gene mutations in adult Japanese patients with acquired bone marrow failure syndromes.

Hiroki Yamaguchi, Koiti Inokuchi, Junko Takeuchi, Hayato Tamai, Yoshio Mitamura, Fumiko Kosaka, Hinh Ly, Kazuo Dan.   

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Year:  2010        PMID： 20560964     DOI： 10.1111/j.1365-2141.2010.08278.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  3 in total

Review 1.  Genetics of human telomere biology disorders.

Authors:  Patrick Revy; Caroline Kannengiesser; Alison A Bertuch
Journal:  Nat Rev Genet       Date:  2022-09-23       Impact factor: 59.581

2.  Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.

Authors:  Hiroki Yamaguchi; Hirotoshi Sakaguchi; Kenichi Yoshida; Miharu Yabe; Hiromasa Yabe; Yusuke Okuno; Hideki Muramatsu; Yoshiyuki Takahashi; Shunsuke Yui; Yuichi Shiraishi; Kenichi Chiba; Hiroko Tanaka; Satoru Miyano; Koiti Inokuchi; Etsuro Ito; Seishi Ogawa; Seiji Kojima
Journal:  Int J Hematol       Date:  2015-09-02       Impact factor: 2.490

3.  Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

Authors:  T Vulliamy; R Beswick; M J Kirwan; U Hossain; A J Walne; I Dokal
Journal:  Clin Genet       Date:  2011-01-04       Impact factor: 4.438
  3 in total

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