Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China

The estimated prevalence of tetrahydrobiopterin deficiency (BH4D) and the mutational spectrum of the causal 6-pyruvoyl-tetrahydropterin synthase (PTS) gene vary widely according to race and region. This study assessed the prevalence and genetic characteristics of BH4D in Fujian Province, southeaster...

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Detalles Bibliográficos
Autores principales: Qiu, Xiaolong, Zhao, Peiran, Luo, Jinying, Li, Guilin, Deng, Lin, Zeng, Yinglin, Xu, Liangpu, Zhou, Jinfu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10451069/
https://www.ncbi.nlm.nih.gov/pubmed/37636258
http://dx.doi.org/10.3389/fgene.2023.1250568

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10451069/
https://www.ncbi.nlm.nih.gov/pubmed/37636258
http://dx.doi.org/10.3389/fgene.2023.1250568

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