Literature DB >> 29744746

Novel Gene Mutation in a Chinese Boy with Severe Congenital Neutropenia.

Tingting Zou1, Jianjun Deng1, Min Shu1, Qin Guo1, Ruixue Miao1, Chao-Min Wan1, Gang Ning2, Yu Zhu3.   

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Year:  2018        PMID： 29744746     DOI： 10.1007/s12098-018-2685-1

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.

Authors:  D C Dale; R E Person; A A Bolyard; A G Aprikyan; C Bos; M A Bonilla; L A Boxer; G Kannourakis; C Zeidler; K Welte; K F Benson; M Horwitz
Journal:  Blood       Date:  2000-10-01       Impact factor: 22.113

2.  Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

Authors:  N Ishikawa; S Okada; M Miki; K Shirao; H Kihara; M Tsumura; K Nakamura; H Kawaguchi; M Ohtsubo; S Yasunaga; K Matsubara; M Sako; J Hara; M Shiohara; S Kojima; T Sato; Y Takihara; M Kobayashi
Journal:  J Med Genet       Date:  2008-07-08       Impact factor: 6.318

3.  Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

Authors:  Bradley N Smith; Phil J Ancliff; Arnold Pizzey; Asim Khwaja; David C Linch; Rosemary E Gale
Journal:  Br J Haematol       Date:  2008-11-22       Impact factor: 6.998

Review 4.  A molecular classification of congenital neutropenia syndromes.

Authors:  Laurence A Boxer; Peter E Newburger
Journal:  Pediatr Blood Cancer       Date:  2007-10-15       Impact factor: 3.167

5.  The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

Authors:  Manuela Germeshausen; Sabine Deerberg; Yvonne Peter; Christina Reimer; Christian P Kratz; Matthias Ballmaier
Journal:  Hum Mutat       Date:  2013-04-02       Impact factor: 4.878
  5 in total
  1 in total

1.  Incidence of Severe Chronic Neutropenia in South Korea and Related Clinical Manifestations: A National Health Insurance Database Study.

Authors:  Nuri Lee; Boung Chul Lee
Journal:  Medicina (Kaunas)       Date:  2020-05-27       Impact factor: 2.430
  1 in total

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