文献
J-GLOBAL ID:200902230749640054
整理番号:08A1254714
骨異形成性老人様皮膚症はRab-6と相互作用するゴルジンであるSCYL1BP1の変異によって引き起こされる
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
著者 (34件):
HENNIES Hans Christian
(Univ. Cologne, Cologne, DEU)
,
KORNAK Uwe
(Charite Universitaetsmedizin, Berlin, DEU)
,
KORNAK Uwe
(Max Planck Inst. for Molecular Genetics, Berlin, DEU)
,
ZHANG Haikuo
(Charite Universitaetsmedizin, Berlin, DEU)
,
ZHANG Haikuo
(Max Planck Inst. for Molecular Genetics, Berlin, DEU)
,
EGERER Johannes
(Max Planck Inst. for Molecular Genetics, Berlin, DEU)
,
EGERER Johannes
(Max Planck Inst. for Biochemistry, Munich, DEU)
,
ZHANG Xin
(Charite Universitaetsmedizin, Berlin, DEU)
,
ZHANG Xin
(Max Planck Inst. for Molecular Genetics, Berlin, DEU)
,
SEIFERT Wenke
(Univ. Cologne, Cologne, DEU)
,
SEIFERT Wenke
(Charite Universitaetsmedizin, Berlin, DEU)
,
KUEHNISCH Jirko
(Charite Universitaetsmedizin, Berlin, DEU)
,
BUDDE Birgit
(Univ. Cologne, Cologne, DEU)
,
NAETEBUS Marc
(Univ. Cologne, Cologne, DEU)
,
BRANCATI Francesco
,
WILCOX William R
(Cedars-Sinai Medical Center, California, USA)
,
MUELLER Dietmar
(Klinikum Chemnitz, Chemnitz, DEU)
,
KAPLAN Paige B
(Univ. Pennsylvania, Pennsylvania, USA)
,
RAJAB Anna
(Directorate General of Health Affairs, Ministry of Health, Muscat, OMN)
,
ZAMPINO Giuseppe
(Universita Cattolica del Sacro Cuore, Rome, ITA)
,
FODALE Valentina
(Istituto Superiore di Sanita, Rome, ITA)
,
DALLAPICCOLA Bruno
,
NEWMAN William
(Univ. Manchester, Manchester, GBR)
,
METCALFE Kay
(Univ. Manchester, Manchester, GBR)
,
CLAYTON-SMITH Jill
(Univ. Manchester, Manchester, GBR)
,
TASSABEHJI May
(Univ. Manchester, Manchester, GBR)
,
STEINMANN Beat
(Univ. Children’s Hospital, Zurich, CHE)
,
BARR Francis A
(Max Planck Inst. for Biochemistry, Munich, DEU)
,
BARR Francis A
(Univ. Liverpool, Liverpool, GBR)
,
NUERNBERG Peter
(Univ. Cologne, Cologne, DEU)
,
WIEACKER Peter
(Westfaelische Wilhelms-Univ., Muenster, DEU)
,
MUNDLOS Stefan
(Charite Universitaetsmedizin, Berlin, DEU)
,
MUNDLOS Stefan
(Max Planck Inst. for Molecular Genetics, Berlin, DEU)
,
MUNDLOS Stefan
(Berlin-Brandenburg Center for Regenerative Therapies, Berlin, DEU)
資料名:
Nature Genetics
(Nature Genetics)
巻:
40
号:
12
ページ:
1410-1412
発行年:
2008年12月
JST資料番号:
W0430A
ISSN:
1061-4036
資料種別:
逐次刊行物 (A)
記事区分:
短報
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)