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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Detalles Bibliográficos
Autores principales: Lee, Wen-I, Huang, Jing-Long, Chen, Chien-Chang, Lin, Ju-Li, Wu, Ren-Chin, Jaing, Tang-Her, Ou, Liang-Shiou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2016
Materias:
3600
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782876/
https://www.ncbi.nlm.nih.gov/pubmed/26945392
http://dx.doi.org/10.1097/MD.0000000000002918

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782876/
https://www.ncbi.nlm.nih.gov/pubmed/26945392
http://dx.doi.org/10.1097/MD.0000000000002918

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