文献

J-GLOBAL ID：201302282170899024   整理番号：08A0952729

ALAS2遺伝子でのC-末端欠失は機能獲得をもたらし,貧血や鉄過負荷が無いX染色体連鎖優性プロトポルフィリアの原因になる

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

著者 (23件)： WHATLEY Sharon D. (Dep. of Medical Biochemistry and Immunology, Univ. Hospital of Wales and, School of Medicine, Cardiff Univ., Cardiff ...) ,  DUCAMP Sarah (Assistance Publique-Hopitaux de Paris, Centre Francais des Porphyries, Hopital Louis Mourier, 178 rue des ...) ,  DUCAMP Sarah (INSERM Unite 773, Centre de Rech. Biomedicale Bichat-Beaujon, Univ. Paris Diderot, Site Bichat, 75018 Paris, FRA) ,  GOUYA Laurent (Assistance Publique-Hopitaux de Paris, Centre Francais des Porphyries, Hopital Louis Mourier, 178 rue des ...) ,  GOUYA Laurent (INSERM Unite 773, Centre de Rech. Biomedicale Bichat-Beaujon, Univ. Paris Diderot, Site Bichat, 75018 Paris, FRA) ,  GRANDCHAMP Bernard (INSERM Unite 773, Centre de Rech. Biomedicale Bichat-Beaujon, Univ. Paris Diderot, Site Bichat, 75018 Paris, FRA) ,  GRANDCHAMP Bernard (Assistance Publique-Hopitaux de Paris, Lab. de Biochimie Hormonale et Genetique, Hopital Bichat, 75018 Paris, FRA) ,  BEAUMONT Carole (INSERM Unite 773, Centre de Rech. Biomedicale Bichat-Beaujon, Univ. Paris Diderot, Site Bichat, 75018 Paris, FRA) ,  BADMINTON Michael N. (Dep. of Medical Biochemistry and Immunology, Univ. Hospital of Wales and, School of Medicine, Cardiff Univ., Cardiff ...) ,  ELDER George H. (Dep. of Medical Biochemistry and Immunology, Univ. Hospital of Wales and, School of Medicine, Cardiff Univ., Cardiff ...) ,  HOLME S. Alexander (Dep. of Dermatology, Univ. Hospital of Wales and, School of Medicine, Cardiff Univ., Cardiff CF14 4XN, GBR) ,  ANSTEY Alexander V. (Dep. of Dermatology, Univ. Hospital of Wales and, School of Medicine, Cardiff Univ., Cardiff CF14 4XN, GBR) ,  PARKER Michelle (Lennox Eales Laboratories, Medical Res. Council-University of Cape Town, Liver Res. Centre, Dep. of Medicine, Univ. ...) ,  CORRIGALL Anne V. (Lennox Eales Laboratories, Medical Res. Council-University of Cape Town, Liver Res. Centre, Dep. of Medicine, Univ. ...) ,  MEISSNER Peter N. (Lennox Eales Laboratories, Medical Res. Council-University of Cape Town, Liver Res. Centre, Dep. of Medicine, Univ. ...) ,  HIFT Richard J. (Lennox Eales Laboratories, Medical Res. Council-University of Cape Town, Liver Res. Centre, Dep. of Medicine, Univ. ...) ,  MARSDEN Joanne T. (Clinical Biochemistry, King’s Coll. Hospital, London SE5 9RS, GBR) ,  MA Yun (Inst. of Liver Studies, King’s Coll. London School of Medicine at King’s Coll. Hospital, London SE5 9RS, GBR) ,  MIELI-VERGANI Giorgina (Inst. of Liver Studies, King’s Coll. London School of Medicine at King’s Coll. Hospital, London SE5 9RS, GBR) ,  DEYBACH Jean-charles (Assistance Publique-Hopitaux de Paris, Centre Francais des Porphyries, Hopital Louis Mourier, 178 rue des ...) ,  DEYBACH Jean-charles (INSERM Unite 773, Centre de Rech. Biomedicale Bichat-Beaujon, Univ. Paris Diderot, Site Bichat, 75018 Paris, FRA) ,  PUY Herve (Assistance Publique-Hopitaux de Paris, Centre Francais des Porphyries, Hopital Louis Mourier, 178 rue des ...) ,  PUY Herve (INSERM Unite 773, Centre de Rech. Biomedicale Bichat-Beaujon, Univ. Paris Diderot, Site Bichat, 75018 Paris, FRA)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 83  号： 3  ページ： 408-414  発行年： 2008年09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 (10件)： ALAS2遺伝子 ,  欠失 ,  獲得 ,  貧血 ,  鉄 ,  過負荷 ,  X染色体 ,  連鎖 ,  優性 ,  原因