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Compound heterozygous state
Xem 1-1 trên 1 kết quả Compound heterozygous state
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Congenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal recessively inherited condition characterized by watery diarrhea, hypochloremia and metabolic alkalosis. Mutations of the solute carrier family 26, member 3 (SLC26A3, OMIM 126650) gene are responsible for the disease.
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vidublin2711
13-01-2020
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