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 vari...

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Main Authors: Xiaoheng XU (Author), Wenxia MENG (Author), Lu FENG (Author), Wei GUO (Author)
Format: Book
Published: Tehran University of Medical Sciences, 2020-06-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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