Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene

Kazuhiro Ohya, Wataru Abo, Hisamitsu Tamaki, Chieko Sugawara, Tetsuya Endo, Shosuke Nomachi, Masaru Fukushi, Miyuki Kinebuchi, Akihiro Matsuura

研究成果: Article

3 引用 (Scopus)

抄録

We report a family study of a presymptomatic form of Wilson disease. Our report demonstrates that mutation analysis is very useful for diagnosing presymptomatic Wilson disease in patients without consanguineous parents and for assessing the carrier status of the patients' family members. Previously undetected mild cases of Wilson disease could be diagnosed using this methodology.

元の言語English
ページ(範囲)124-126
ページ数3
ジャーナルEuropean Journal of Pediatrics
161
発行部数2
DOI
出版物ステータスPublished - 01-01-2002

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Hepatolenticular Degeneration
Mutation
Genes
Asymptomatic Diseases
Parents

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

これを引用

Ohya, Kazuhiro ; Abo, Wataru ; Tamaki, Hisamitsu ; Sugawara, Chieko ; Endo, Tetsuya ; Nomachi, Shosuke ; Fukushi, Masaru ; Kinebuchi, Miyuki ; Matsuura, Akihiro. / Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene. :: European Journal of Pediatrics. 2002 ; 巻 161, 番号 2. pp. 124-126.
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Ohya, K, Abo, W, Tamaki, H, Sugawara, C, Endo, T, Nomachi, S, Fukushi, M, Kinebuchi, M & Matsuura, A 2002, 'Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene', European Journal of Pediatrics, 巻. 161, 番号 2, pp. 124-126. https://doi.org/10.1007/s00431-001-0865-9

Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene. / Ohya, Kazuhiro; Abo, Wataru; Tamaki, Hisamitsu; Sugawara, Chieko; Endo, Tetsuya; Nomachi, Shosuke; Fukushi, Masaru; Kinebuchi, Miyuki; Matsuura, Akihiro.

:: European Journal of Pediatrics, 巻 161, 番号 2, 01.01.2002, p. 124-126.

研究成果: Article

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