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- Title
A novel missense mutation Q495K of SLC26A3 gene identified in a Chinese child with congenital chloride-losing diarrhoea.
- Authors
Guo, Hongmei; Zheng, Bi‐Xia; Jin, Yu; Zheng, Bi-Xia
- Abstract
The article presents a case study of an infant with congenital chloride-losing diarrhoea (CLD). Topics discussed include observation of hypochloraemia alkalosis with hypokalaemia conditions in an infant through examination of electrolytes; adoption of direct sequencing approaches for assessment of mutation in the infant; observation of missense mutation of the SLC26A3 gene; and provision of oral rehydration therapy for infants with consumption of salt substitutes.
- Subjects
DIARRHEA in infants; HYPOKALEMIA; HUMAN missense mutation; ORAL rehydration therapy for infants; SALT substitutes
- Publication
Acta Paediatrica, 2017, Vol 106, Issue 6, p1004
- ISSN
0803-5253
- Publication type
journal article
- DOI
10.1111/apa.13811