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DGAT1 mutations leading to delayed chronic diarrhoea: a case report

BACKGROUND: Early-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol o-acyltransferase 1 (DGAT1) has recently been linked to early-onset chronic diarrhoea. To date, only a few cases of DGAT1 deficiency have been reported. Diarrhoea in those cases was severe and...

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Podrobná bibliografie
Vydáno v:BMC Med Genet
Hlavní autoři: Xu, Luojia, Gu, Weizhong, Luo, Youyou, Lou, Jingan, Chen, Jie
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7708908/
https://ncbi.nlm.nih.gov/pubmed/33261563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01164-1
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