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Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea
Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl(-)-rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene, which encodes a coupled Cl(-)/HCO(3)(-) exchanger in the ileum and colon, are known to caus...
Tallennettuna:
| Päätekijät: | , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
The Korean Society for Laboratory Medicine
2012
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3384816/ https://ncbi.nlm.nih.gov/pubmed/22779076 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2012.32.4.312 |
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