Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency

BACKGROUND: Enterokinase deficiency (EKD) is a rare autosomal recessively inherited disorder mainly characterized by diarrhea, hypoproteinemia and failure to thrive in infancy. Loss-of-function variants in the TMPRSS15 gene cause EKD. METHODS: We report the clinical manifestations and molecular basi...

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Detalles Bibliográficos
Autores principales: Wang, Lan, Zhang, Dan, Fan, Cheng, Zhou, Xiaoying, Liu, Zhifeng, Zheng, Bixia, Zhu, Li, Jin, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7517701/
https://www.ncbi.nlm.nih.gov/pubmed/33061943
http://dx.doi.org/10.3389/fgene.2020.538778

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7517701/
https://www.ncbi.nlm.nih.gov/pubmed/33061943
http://dx.doi.org/10.3389/fgene.2020.538778

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