Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis.

Xiuping Wang Xiaoliang OuyangDeng ZhangYunxia ZhuLiang WuZhen XiaoSimin YuWei LiChunming Li

Published in: Clinical, cosmetic and investigational dermatology (2024)

Our results extended the mutation spectrum of mevalonate pathway genes in porokeratosis and provided useful strategies for a more accurate diagnosis and genetic counseling.

Keyphrases

genome wide
genome wide identification
bioinformatics analysis
dna methylation
high resolution
copy number
gene expression
genome wide analysis
transcription factor
hiv testing
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