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A Japanese patient with hereditary angioedema caused by deep intron variation in the SERPING1 gene.
Tokimasa Hida
Aki Ishikawa
Masae Okura
Mari Kishibe
Hisashi Uhara
Published in:
The Journal of dermatology (2023)
Keyphrases
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case report
genome wide
copy number
angiotensin converting enzyme
gene expression
dna methylation
genome wide analysis