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Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with around 250 cases reported so far. Life‐long secretory diarrhea is caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene disrupting the epithelial Cl−/HCO transport in the ileum and colon. Although salt substitution allows favorable outcome, possible manifestations include renal impairment, intestinal...
We have evaluated three genotyping techniques to detect allelic association between single nucleotide polymorphisms (SNPs) and disease loci by using pooled DNA samples. The use of DNA pools instead of individual samples saves considerably time, DNA quantity, and reagent costs. The methods that were compared were PCR-restriction fragment length polymorphism (PCR-RFLP), Single nucleotide primer extension,...
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