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Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa

Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa
Digital博士論文障害者向け資料あり
Zhao, Yang2013-09-20
National Diet Library
  • Subject HeadingRetinitis pigmentosa autosomal recessive USH2A gene Japanese patient

Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1

Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1
Digital博士論文障害者向け資料あり
竹田, 育子2014-01-23
National Diet Library
  • Subject HeadingAndersen-Tawil syndrome KCNJ2 Kir2.1 autosomal recessive patch clamp
  • Note (General)...tation causing autosomal recessive ATS, and explo......nsmitted as an autosomal recessive trait. Ikuko T......asu Matsumoto; Autosomal recessive Andersen-Tawil syndrome with ...

Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa

Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa
Digital博士論文
Zhao, Yang2013-09-20
Available onlineOther Libraries in Japan
  • Subject HeadingRetinitis pigmentosa autosomal recessive USH2A gene Japanese patient

Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1

Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1
Digital博士論文
Takeda, Ikuko
Available onlineOther Libraries in Japan
  • Subject HeadingAndersen-Tawil syndrome KCNJ2 Kir2.1 autosomal recessive patch clamp
  • Note (General)...tation causing autosomal recessive ATS, and explo......nsmitted as an autosomal recessive trait.

Kir2.1に新規ミスセンス変異（L94P）を認める常染色体劣性遺伝形式のAndersen-Tawil症候群

Kir2.1に新規ミスセンス変異（L94P）を認める常染色体劣性遺伝形式のAndersen-Tawil症候群
Digital博士論文
竹田, 育子
Available onlineOther Libraries in Japan
  • Summary, etc....tation causing autosomal recessive ATS, and explo......nsmitted as an autosomal recessive trait.
  • Subject HeadingAndersen-Tawil syndrome KCNJ2 Kir2.1 autosomal recessive patch clamp
  • References...asu Matsumoto; Autosomal recessive Andersen-Tawil syndrome with ...

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