Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing

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 ligati...

Source: Orphanet Journal of Rare Diseases - May 26, 2023 Category: Internal Medicine Authors: Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao and Xu Ma Tags: Research Source Type: research