Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation

Cystic fibrosis (CF) is a relatively rare disease in Asians with various clinical characteristics, including CF-associated liver disease (CFLD), which is a common early non-pulmonary complication. This case report describes a Chinese CF patient harboring a homozygous nonsense mutation (c.1657C>T,...

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Detalles Bibliográficos
Autores principales: Li, Haiyan, Lin, Li, Hu, Xiaoguang, Li, Changchong, Zhang, Hailin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391319/
https://www.ncbi.nlm.nih.gov/pubmed/30842938
http://dx.doi.org/10.3389/fped.2019.00036

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391319/
https://www.ncbi.nlm.nih.gov/pubmed/30842938
http://dx.doi.org/10.3389/fped.2019.00036

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