TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents
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England: BMJ Publishing Group Ltd
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Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Contents
IntroductionTMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent episodes of haemorrhagic diarrhoea. In one of them, the episodes were characterised by hepatic pneumatosis with gas bubbles in the portal vein similar to necr...
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Full title
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents
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TN_cdi_proquest_miscellaneous_2409188950
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2409188950
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2020-106978
