New and Inherited STAT1 Mutations in a Chinese Family with Chronic Mucocutaneous Candidiasis: A Case Report
A mild clinical Chronic Mucocutaneous Candidiasis (CMC) phenotype with STAT1 transcription factor mutation has been identified in a Chinese family. It is a rare variant in STAT1 (NM_0073315.3c.1175T>C Met392Thr). Specifically, it is a heterozygous mutation. To date, the pathogenicity of this var...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Tehran University of Medical Sciences
2020-06-01
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Series: | Iranian Journal of Public Health |
Subjects: | |
Online Access: | https://ijph.tums.ac.ir/index.php/ijph/article/view/17966 |