Article
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
Orphanet journal of rare diseases - 26 May 2023
Zhang Chuan, Yan Yousheng, Zhou Bingbo, Wang Yupei, Tian Xinyuan, Hao Shengju, Ma Panpan, Zheng Lei, Zhang Qinghua, Hui Ling, Wang Yan, Cao Zongfu, Ma Xu
Abstract excerpt
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive congenital metabolic disorder caused by PAH variants. Previously, approximately 5% of PKU patients remained undiagnosed after Sanger sequencing and multiplex ligation-dependent probe amplification. To date, increasing numbers of pathogenic deep intronic variants have been reported in more than 100 disease-associated genes. METHODS: In this study, we...
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