High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy

Yukihiko Mashima, Yoshiki Hiida, Yoshihisa Oguchi, Jun Kudoh, Nobuyoshi Shimizu

研究成果: Article査読

32 被引用数 (Scopus)

抄録

We have investigated the presence of a point mutation at position 11778 in the ND4 gene of mitochondrial DNA in 17 Japanese families with Leber's hereditary optic neuropathy (LHON), and have identified the mutation in 14 (82.4%) of the 17 families. The prevalence of this mutation appears to be much higher in Japanese patients with LHON than in patients of other ethnic origins, such as Finnish, Dutch, German, and English families.

本文言語English
ページ(範囲)101-102
ページ数2
ジャーナルHuman genetics
92
1
DOI
出版ステータスPublished - 1993 8月

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

フィンガープリント

「High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

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