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

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

Abstract 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 pat...

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Bibliográfalaš dieđut
Váldodahkkit: Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu Ma
Materiálatiipa: Artihkal
Giella:English
Almmustuhtton: BMC 2023-05-01
Ráidu:Orphanet Journal of Rare Diseases
Fáttát:
PKU
PAH
Deep intronic variant
RNA splicing
Minigene
Liŋkkat:https://doi.org/10.1186/s13023-023-02742-1

Interneahtta

https://doi.org/10.1186/s13023-023-02742-1

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