- Different Clinical Phenotypes in Familial Severe Congenital Neutropenia Cases with Same Mutation of the ELANE Gene
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Cho HK, Jeon IS
- KMID: 1734937
- J Korean Med Sci.
- 2014 Mar;29(3):452-455.
- doi: 10.3346/jkms.2014.29.3.452
Severe congenital neutropenia (SCN) is a heterogeneous group of disorders with a defect in granulopoiesis causing marked neutropenia and severe bacterial infections. A 17-month-old girl (patient 1) was admitted due... -
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- Novel ELANE Gene Mutation in a Korean Girl with Severe Congenital Neutropenia
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Shim YJ, Kim HJ, Suh JS, Lee KS
- KMID: 1786025
- J Korean Med Sci.
- 2011 Dec;26(12):1646-1649.
- doi: 10.3346/jkms.2011.26.12.1646
Severe congenital neutropenia is a heterozygous group of bone marrow failure syndromes that cause lifelong infections. Mutation of the ELANE gene encoding human neutrophil elastase is the most common genetic... -
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