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AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Akizu, Naiara; Cantagrel, Vincent; Schroth, Jana; Cai, Na; Vaux, Keith; McCloskey, Douglas; Naviaux, Robert K; Van Vleet, Jeremy; Fenstermaker, Ali G; Silhavy, Jennifer L; Scheliga, Judith S; Toyama, Keiko; Morisaki, Hiroko; Sonmez, Fatma M; Celep, Figen; Oraby, Azza; Zaki, Maha S; Al-Baradie, Raidah; Faqeih, Eissa A; Saleh, Mohammed A M; Spencer, Emily; Rosti, Rasim Ozgur; Scott, Eric; Nickerson, Elizabeth; Gabriel, Stacey; Morisaki, Takayuki; Holmes, Edward W; Gleeson, Joseph G.
Afiliação
  • Akizu N; Neurogenetics Laboratory, Institute for Genomic Medicine, Rady Children's Hospital, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Cell ; 154(3): 505-17, 2013 Aug 01.
Article em En | MEDLINE | ID: mdl-23911318
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Purinas / Atrofias Olivopontocerebelares / AMP Desaminase Limite: Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2013 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Purinas / Atrofias Olivopontocerebelares / AMP Desaminase Limite: Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2013 Tipo de documento: Article