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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Bibliografiset tiedot
Julkaisussa:Front Genet
Päätekijät: Wang, Lan, Zhang, Dan, Fan, Cheng, Zhou, Xiaoying, Liu, Zhifeng, Zheng, Bixia, Zhu, Li, Jin, Yu
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2020
Aiheet:
Genetics
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7517701/
https://ncbi.nlm.nih.gov/pubmed/33061943
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.538778
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