文献

J-GLOBAL ID：200902209449011595   整理番号：09A0075938

劣性骨格形成異常であるSEMDアグレカン型はアグレカンのC型レクチン領域に影響を与えるミスセンス突然変異に由来する

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

著者 (20件)： TOMPSON Stuart W. (Medical Genetics Inst., Steven Spielberg Building, Cedars-Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA ...) ,  MERRIMAN Barry (Dep. of Human Genetics, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA 90095, USA) ,  FUNARI Vincent A. (Medical Genetics Inst., Steven Spielberg Building, Cedars-Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA ...) ,  FUNARI Vincent A. (Dep. of Pediatrics, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA 90095, USA) ,  FRESQUET Maryline (Wellcome Trust Centre for Cell-Matrix Res., Fac. of Life Sciences, Univ. of Manchester, Manchester M13 9PT, GBR) ,  LACHMAN Ralph S. (Medical Genetics Inst., Steven Spielberg Building, Cedars-Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA ...) ,  LACHMAN Ralph S. (Dep. of Pediatrics, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA 90095, USA) ,  LACHMAN Ralph S. (Dep. of Radiological Sciences, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA ...) ,  RIMOIN David L. (Medical Genetics Inst., Steven Spielberg Building, Cedars-Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA ...) ,  RIMOIN David L. (Dep. of Human Genetics, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA 90095, USA) ,  RIMOIN David L. (Dep. of Pediatrics, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA 90095, USA) ,  RIMOIN David L. (Dep. of Medicine, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA 90095, USA) ,  NELSON Stanley F. (Dep. of Human Genetics, David Geffen School of Medicine, Univ. of California, Los Angeles, Los Angeles, CA 90095, USA) ,  BRIGGS Michael D. (Wellcome Trust Centre for Cell-Matrix Res., Fac. of Life Sciences, Univ. of Manchester, Manchester M13 9PT, GBR) ,  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) ,  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 ...)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 84  号： 1  ページ： 72-79  発行年： 2009年01月09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 (5件)： 劣性 ,  骨格形成異常 ,  アグレカン ,  C型レクチン ,  ミスセンス突然変異