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- Masami Minemura, Rei Fukuda, Kazuto Tajiri, Nozomu Muraishi, Aiko Murayama, Yuka Hayashi, Terumi Takahara, Akira Noguchi, and Ichiro Yasuda.
- Department of Gastroenterology, Toyama University Hospital, Japan.
- Intern. Med. 2024 Jul 4.
AbstractA 19-year-old Japanese man was referred for a further evaluation of liver dysfunction. Despite the absence of symptoms or obesity, the liver biopsy results were consistent with non-alcoholic steatohepatitis. Subsequent investigations revealed low serum ceruloplasmin, increased urinary copper excretion, and a known mutation c.3809A>G (p.Asn1270Ser) in the copper-transporting enzyme P-type ATPase (ATP7B) gene, leading to a diagnosis of Wilson's disease. A previously unreported variant, i.e., c.3866A>T (p.Asp1289Val) was detected on the patient's other allele and was considered a novel mutation, classified as 'likely pathogenic' according to the American College of Medical Genetics guidelines.
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