Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience

Autor: Shi C, Liu XL, Li XN, Zhao YJ
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Balkan Journal of Medical Genetics, Vol 27, Iss 1, Pp 69-74 (2024)
Druh dokumentu: article
ISSN: 2199-5761
DOI: 10.2478/bjmg-2024-0005
Popis: Congenital diarrheal disorders (CDD) are a group of rare inherited intestinal disorders, among which CDD7 was recently identified to be associated with only 24 mutations in gene coding for diacylglycerol-acyltransferase 1 (DGAT1).
Databáze: Directory of Open Access Journals
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