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- Title
Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents.
- Authors
Kunishima, Shinji; Kitamura, Katsumasa; Matsumoto, Tae; Sekine, Takashi; Saito, Hidehiko
- Abstract
A case study of a 6-year-old Japanese boy found to have proteinuria and haematuria at school urinalysis is presented. It informs that thrombocytopenia was detected during routine screening of blood prior to a kidney biopsy of the boy. It further informs that the immunofluorescence analysis for granulocyte (NMMHC-IIA) localization showed association with the Myosin, heavy chain 9 (MYH9) nonmuscle protein.
- Subjects
MOSAICISM; IMMUNOFLUORESCENCE; GRANULOCYTES; NONMUSCLE myosin; PROTEINURIA in children
- Publication
British Journal of Haematology, 2014, Vol 165, Issue 6, p885
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.12797