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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy |
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Titel: |
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy |
Auteur: |
Ravenscroft, Gianina Miyatake, Satoko Lehtokari, Vilma-Lotta Todd, Emily J. Vornanen, Pauliina Yau, Kyle S. Hayashi, Yukiko K. Miyake, Noriko Tsurusaki, Yoshinori Doi, Hiroshi Saitsu, Hirotomo Osaka, Hitoshi Yamashita, Sumimasa Ohya, Takashi Sakamoto, Yuko Koshimizu, Eriko Imamura, Shintaro Yamashita, Michiaki Ogata, Kazuhiro Shiina, Masaaki Bryson-Richardson, Robert J. Vaz, Raquel Ceyhan, Ozge Brownstein, Catherine A. Swanson, Lindsay C. Monnot, Sophie Romero, Norma B. Amthor, Helge Kresoje, Nina Sivadorai, Padma Kiraly-Borri, Cathy Haliloglu, Goknur Talim, Beril Orhan, Diclehan Kale, Gulsev Charles, Adrian K. Fabian, Victoria A. Davis, Mark R. Lammens, Martin Sewry, Caroline A. Manzur, Adnan Muntoni, Francesco Clarke, Nigel F. North, Kathryn N. Bertini, Enrico Nevo, Yoram Willichowski, Ekkhard Silberg, Inger E. Topaloglu, Haluk Beggs, Alan H. Allcock, Richard J.N. Nishino, Ichizo Wallgren-Pettersson, Carina Matsumoto, Naomichi Laing, Nigel G. |
Verschenen in: |
The American journal of human genetics |
Paginering: |
Jaargang 93 (2013) nr. 1 pagina's 13 p. |
Jaar: |
2013 |
Inhoud: |
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Uitgever: |
The American Society of Human Genetics |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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