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Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare, autosomal recessive and severe bowel disorder mainly caused by mutations in the tetratricopeptide repeat domain 37 (TTC37) gene which act as heterotetrameric cofactors to enhance aberrant mRNAs decay. The phenotype and immune prof...

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Bibliografske podrobnosti
izdano v:Medicine (Baltimore)
Main Authors: Lee, Wen-I, Huang, Jing-Long, Chen, Chien-Chang, Lin, Ju-Li, Wu, Ren-Chin, Jaing, Tang-Her, Ou, Liang-Shiou
Format: Artigo
Jezik:Inglês
Izdano: Wolters Kluwer Health 2016
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4782876/
https://ncbi.nlm.nih.gov/pubmed/26945392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000002918
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