TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy

Background: TMEM199-congenital disorder of glycosylation (TMEM199-CDG) is a rare autosomal recessive inherited disease characterized by chronically elevated serum transaminase, decreased serum ceruloplasmin, steatosis and/or fibrosis, TMEM199 mutation, reduced level of TMEM199 protein, and abnormal...

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Detalles Bibliográficos
Autores principales: Fang, Yuan, Abuduxikuer, Kuerbanjiang, Wang, Yi-Zhen, Li, Shao-Mei, Chen, Lian, Wang, Jian-She
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8988039/
https://www.ncbi.nlm.nih.gov/pubmed/35401690
http://dx.doi.org/10.3389/fgene.2022.833495

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8988039/
https://www.ncbi.nlm.nih.gov/pubmed/35401690
http://dx.doi.org/10.3389/fgene.2022.833495

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