Articles with "mutations atp7b" as a keyword



Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis

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Published in 2020 at "Medicine"

DOI: 10.1097/md.0000000000020997

Abstract: Abstract Introduction: Wilson disease (WD) is an autosomal-recessive disorder of copper metabolism, which exhibits various symptoms due to the combination of environmental and genetic factors. Here, we report a WD patient who displayed distinctive symptom… read more here.

Keywords: patient; heterozygous mutations; enuresis; mutations atp7b ... See more keywords