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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10214626/
https://www.ncbi.nlm.nih.gov/pubmed/37237386
http://dx.doi.org/10.1186/s13023-023-02742-1

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