PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report

BACKGROUND: Pyruvate carboxylase deficiency (PCD; MIM#266150) is a rare autosomal recessive disorder characterized by a wide range of clinical features, including delayed neurodevelopment, elevated pyruvate levels, lactic acidosis, elevated ketone levels, and hyperammonemia. The pyruvate carboxylase...

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Detalles Bibliográficos
Autores principales: Tao, DongYing, Zhang, HuiQin, Yang, Jingmin, Niu, HuanHong, Zhang, JingJing, Zeng, Minghua, Cheng, ShengQuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9096210/
https://www.ncbi.nlm.nih.gov/pubmed/35573952
http://dx.doi.org/10.3389/fped.2022.825515

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9096210/
https://www.ncbi.nlm.nih.gov/pubmed/35573952
http://dx.doi.org/10.3389/fped.2022.825515

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