Congenital cataract and congenital chloride diarrhoea—a unique combination and antenatal diagnosis

Congenital chloride diarrhoea (CCD) is a serious inherited defect of intestinal electrolyte absorption transmitted in an autosomal recessive way. The molecular pathology involves an epithelial Cl(-)/HCO(3)(-) exchanger protein, encoded by the solute carrier family 26 member 3 gene (SLC26A3) and know...

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Bibliografiska uppgifter
Huvudupphovsmän: Wani, Abdul Majid, Janhan, Noor, Hussain, Waleed Mohd, Fatani, Mohamad Ibrahim, Hemdi, Mohannad, Imam, Ahmed, Khoujah, Amer Mohd, Akhtar, Mubeena, Shiekh, Firdous
Materialtyp: Artigo
Språk:Inglês
Publicerad: BMJ Publishing Group 2009
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3029539/
https://ncbi.nlm.nih.gov/pubmed/21847417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.04.2009.1775
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