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Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.
Kikuchi, Taeko; Nomura, Masayo; Tomita, Hiroaki; Harada, Naoki; Kanai, Kazuaki; Konishi, Tohru; Yasuda, Ayako; Matsuura, Masato; Kato, Nobumasa; Yoshiura, Koh-Ichiro; Niikawa, Norio.
Affiliation
  • Kikuchi T; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1-12-4, Nagasaki, 852-8523, Japan.
  • Nomura M; Department of Psychiatry, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Tomita H; Solution Oriented Research of Science and Technology (SORST), Japan Science and Technology Agency (JST), Kawaguchi, Japan.
  • Harada N; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1-12-4, Nagasaki, 852-8523, Japan.
  • Kanai K; Solution Oriented Research of Science and Technology (SORST), Japan Science and Technology Agency (JST), Kawaguchi, Japan.
  • Konishi T; Department of Psychobiology, Graduate School of Medicine, Tohoku University, Sendai, Japan.
  • Yasuda A; Kyushu Medical Science, Nagasaki, Japan.
  • Matsuura M; Solution Oriented Research of Science and Technology (SORST), Japan Science and Technology Agency (JST), Kawaguchi, Japan.
  • Kato N; Department of Neurology, Chiba University School of Medicine, Chiba, Japan.
  • Yoshiura KI; Division of Pediatrics, Nagaoka Ryoikuen, Nagaoka, Japan.
  • Niikawa N; Department of Pediatrics, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
J Hum Genet ; 52(4): 334-341, 2007.
Article in En | MEDLINE | ID: mdl-17387577
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Athetosis / Chromosomes, Human, Pair 16 / Chorea Type of study: Diagnostic_studies Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2007 Document type: Article Affiliation country: Japan Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Athetosis / Chromosomes, Human, Pair 16 / Chorea Type of study: Diagnostic_studies Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2007 Document type: Article Affiliation country: Japan Country of publication: United kingdom