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J-GLOBAL ID：201002243636466053   整理番号：10A1459697

Fibrochondrogenesis(致死短期四肢骨異形成症)はCOL11A1-XI型のコラーゲン遺伝子の突然変異に起因する

Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

著者 (18件)： TOMPSON Stuart W. (Medical Genetics Inst., Steven Spielberg Building, Cedars-Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA ...) ,  BACINO Carlos A. (Dep. of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX 77013, USA) ,  SAFINA Nicole P. (Children’s Hospital of The King’s Daughters, Norfolk, VA 23507, USA) ,  BOBER Michael B. (Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA) ,  PROUD Virginia K. (Children’s Hospital of The King’s Daughters, Norfolk, VA 23507, USA) ,  FUNARI Tara (Medical Genetics Inst., Steven Spielberg Building, Cedars-Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA ...) ,  WANGLER Michael F. (Dep. of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX 77013, USA) ,  NEVAREZ Lisette (Medical Genetics Inst., Steven Spielberg Building, Cedars-Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA ...) ,  ALA-KOKKO Leena (Connective Tissue Gene Tests, Allentown, PA 18106, USA) ,  WILCOX William R. (Medical Genetics Inst., Steven Spielberg Building, Cedars-Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA ...) ,  WILCOX William R. (Dep. of Pediatrics, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA 90095, USA) ,  EYRE David R. (Dep. of Orthopaedics and Sports Medicine, Univ. of Washington, Seattle, Washington 98195, USA) ,  KRAKOW Deborah (Medical Genetics Inst., Steven Spielberg Building, Cedars-Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA ...) ,  KRAKOW Deborah (Dep. of Human Genetics, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA 90095, USA) ,  KRAKOW Deborah (Dep. of Orthopedic Surgery, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA 90095 ...) ,  COHN Daniel H. (Medical Genetics Inst., Steven Spielberg Building, Cedars-Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA ...) ,  COHN Daniel H. (Dep. of Human Genetics, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA 90095, USA) ,  COHN Daniel H. (Dep. of Pediatrics, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA 90095, USA)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 87  号： 5  ページ： 708-712  発行年： 2010年11月12日 
JST資料番号： B0360B  ISSN： 0002-9297  資料種別： 逐次刊行物 (A)
発行国： オランダ (NLD)  言語： 英語 (EN)

タイトルに関連する用語 (7件)： 短期 ,  四肢 ,  骨異形成症 ,  コラーゲン ,  遺伝子 ,  突然変異 ,  起因