DGAT1 mutation is linked to a congenital diarrheal disorder

Congenital diarrheal disorders (CDDs) are a collection of rare, heterogeneous enteropathies with early onset and often severe outcomes. Here, we report a family of Ashkenazi Jewish descent, with 2 out of 3 children affected by CDD. Both affected children presented 3 days after birth with severe, int...

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Hlavní autoři: Haas, Joel T., Winter, Harland S., Lim, Elaine, Kirby, Andrew, Blumenstiel, Brendan, DeFelice, Matthew, Gabriel, Stacey, Branski, David, Grueter, Carrie A., Toporovski, Mauro S., Walther, Tobias C., Daly, Mark J., Farese, Robert V., Jalas, Chaim
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2012
Témata:
Brief Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3533555/
https://ncbi.nlm.nih.gov/pubmed/23114594
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI64873
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