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A family of severe congenital neutropenia with −199c to a substitution in ELA2 promoter

✍ Scribed by Hiromichi Matsushita; Satomi Asai; Shuhei Komiya; Hiroyasu Inoue; Hiromasa Yabe; Hayato Miyachi


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
415 KB
Volume
81
Category
Article
ISSN
0361-8609

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Severe congenital neutropenia in a multi
✍ Esther van de Vosse; Els M. Verhard; Anton J. T. Tool; Adriëtte W. de Visser; Ta 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 218 KB

We have analysed a family with nine congenital neutropenia patients in four generations, several of which we have studied in a long-term follow-up of over 25 years. The patients were mild to severe neutropenic and suffered from various recurrent bacterial infections. Mutations in the genes __ELANE__