Article
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.
Journal of pediatric gastroenterology and nutrition - 1 Jul 2017
Amato Felice, Cardillo Giuseppe, Liguori Renato, Scorza Manuela, Comegna Marika, Elce Ausilia, Giordano Sonia, Lucaccioni Laura, Lugli Licia, Cardile Sabrina, Romano Claudio, Pezzella Vincenza, Castaldo Giuseppe, Berni Canani Roberto
Abstract excerpt
OBJECTIVES: We aimed to improve the knowledge of pathogenic mutations in sporadic cases of congenital chloride diarrhea (CCD) and emphasize the importance of functional studies to define the effect of novel mutations. METHODS: All member 3 of solute carrier family 26 (SLC26A3) coding regions were sequenced in 17 sporadic patients with CCD. Moreover, the minigene system was used to analyze the effect of 2 novel...
Topics
- Case-Control Studies
- Chloride-Bicarbonate Antiporters
- Diarrhea
- Genetic Markers
- Genetic Testing
- Genotype
- Genotyping Techniques
- Humans
- Metabolism, Inborn Errors