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Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia
Authors:Hee‐Jung Kim MD  PhD  Min‐Jung Song  Ki‐O Lee  Sun‐Hee Kim  Hee‐Jin Kim
Affiliation:1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea;2. Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Korea
Abstract:
Keywords:ELANE  severe congenital neutropenia  somatic mosaicism
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