Literature DB >> 18946670

A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.

Seung-Tae Lee, Hoi-Soo Yoon, Hee-Jin Kim, Jae-Hee Lee, Jun-Hee Park, Sun-Hee Kim, Jong-Jin Seo, Ho Joon Im.   

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Year:  2008        PMID： 18946670     DOI： 10.1007/s00277-008-0629-y

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   3.673


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  3 in total

1.  Novel ELANE gene mutation in a Korean girl with severe congenital neutropenia.

Authors:  Ye Jee Shim; Hee-Jin Kim; Jang Soo Suh; Kun Soo Lee
Journal:  J Korean Med Sci       Date:  2011-11-29       Impact factor: 2.153

Review 2.  Current insights into inherited bone marrow failure syndromes.

Authors:  Nack-Gyun Chung; Myungshin Kim
Journal:  Korean J Pediatr       Date:  2014-08-25

3.  Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.

Authors:  Esther van de Vosse; Els M Verhard; Anton J T Tool; Adriëtte W de Visser; Taco W Kuijpers; Pieter S Hiemstra; Jaap T van Dissel
Journal:  Ann Hematol       Date:  2010-08-28       Impact factor: 3.673
  3 in total

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