Associated Papers
Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia.
Yan W et al.
Orphanet Journal of Rare Diseases, 2021
Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
Konishi KI et al.
The Journal of Pediatrics, 2019
Functional characterization of SLC26A3 c.392C>G (p.P131R) mutation in intestinal barrier function using CRISPR/CAS9-created cell models.
Zhang N et al.
Cell & Bioscience, 2019
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.
Hong J et al.
European Journal of Pediatrics, 2013
Update on SLC26A3 mutations in congenital chloride diarrhea.
Wedenoja S et al.
Human Mutation, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
SLC26A3 mutations in congenital chloride diarrhea.
Mäkelä S et al.
Human Mutation, 2002
Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea.
Kere J et al.
The American Journal of Physiology, 1999
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