文献

J-GLOBAL ID：201002255907584268   整理番号：10A1155897

セリンパルミトイルトランスフェラーゼのSPTLC2サブユニットの突然変異は遺伝性感覚および自律性ニューロパシー1型を引き起こす

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

著者 (32件)： ROTTHIER Annelies (Peripheral Neuropathy Group, VIB Dep. of Molecular Genetics, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  ROTTHIER Annelies (Lab. of Neurogenetics, Inst. Born-Bunge, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  AUER-GRUMBACH Michaela (Dep. of Internal Medicine, Div. of Endocrinology and Metabolism, Medical Univ. of Graz, A-8036 Graz, AUT) ,  JANSSENS Katrien (Peripheral Neuropathy Group, VIB Dep. of Molecular Genetics, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  JANSSENS Katrien (Lab. of Neurogenetics, Inst. Born-Bunge, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  BAETS Jonathan (Neurogenetics Group, VIB Dep. of Molecular Genetics, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  BAETS Jonathan (Lab. of Neurogenetics, Inst. Born-Bunge, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  BAETS Jonathan (Dep. of Neurology, Univ. Hospital Antwerp, B-2650 Antwerp, BEL) ,  PENNO Anke (Inst. for Clinical Chemistry, Univ. Hospital Zurich, CH-8091 Zurich, CHE) ,  PENNO Anke (Competence Center for Systems Physiology and Metabolic Diseases, CH-8093 Zurich, CHE) ,  ALMEIDA-SOUZA Leonardo (Peripheral Neuropathy Group, VIB Dep. of Molecular Genetics, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  ALMEIDA-SOUZA Leonardo (Lab. of Neurogenetics, Inst. Born-Bunge, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  VAN HOOF Kim (Peripheral Neuropathy Group, VIB Dep. of Molecular Genetics, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  VAN HOOF Kim (Lab. of Neurogenetics, Inst. Born-Bunge, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  JACOBS An (Peripheral Neuropathy Group, VIB Dep. of Molecular Genetics, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  JACOBS An (Lab. of Neurogenetics, Inst. Born-Bunge, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  DE VRIENDT Els (Neurogenetics Group, VIB Dep. of Molecular Genetics, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  DE VRIENDT Els (Lab. of Neurogenetics, Inst. Born-Bunge, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  SCHLOTTER-WEIGEL Beate (Friedrich-Baur-Institut, Dep. of Neurology Ludwig-Maximilians-University of Munich, D-80336 Munich, DEU) ,  LOESCHER Wolfgang (Dep. of Neurology, Innsbruck Medical Univ., A-6020 Innsbruck, AUT) ,  VONDRACEK Petr (Dep. of Paediatric Neurology, Univ. Hospital and Masaryk Univ., CZ-613 00 Brno, CZE) ,  SEEMAN Pavel (Dep. of Child Neurology, Charles Univ., 2^nd School of Medicine Prague, CZ-150 06 Prague, CZE) ,  DE JONGHE Peter (Neurogenetics Group, VIB Dep. of Molecular Genetics, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  DE JONGHE Peter (Lab. of Neurogenetics, Inst. Born-Bunge, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  DE JONGHE Peter (Dep. of Neurology, Univ. Hospital Antwerp, B-2650 Antwerp, BEL) ,  VAN DIJCK Patrick (VIB Dep. of Molecular Microbiology, Lab. of Molecular Cell biology, Univ. of Leuven, B-3001 Leuven, BEL) ,  JORDANOVA Albena (Neurogenetics Group, VIB Dep. of Molecular Genetics, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  JORDANOVA Albena (Lab. of Neurogenetics, Inst. Born-Bunge, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  HORNEMANN Thorsten (Inst. for Clinical Chemistry, Univ. Hospital Zurich, CH-8091 Zurich, CHE) ,  HORNEMANN Thorsten (Inst. of Physiology and Zurich Center for Integrative Human Physiology (ZIHP), Univ. of Zurich, CH- 8057 Zurich, CHE) ,  TIMMERMAN Vincent (Peripheral Neuropathy Group, VIB Dep. of Molecular Genetics, Univ. of Antwerp, B-2610 Antwerp, BEL) ,  TIMMERMAN Vincent (Lab. of Neurogenetics, Inst. Born-Bunge, Univ. of Antwerp, B-2610 Antwerp, BEL)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 87  号： 4  ページ： 513-522  発行年： 2010年10月08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 (6件)： セリンパルミトイルトランスフェラーゼ ,  サブユニット ,  突然変異 ,  遺伝 ,  性感覚 ,  自律性ニューロパシー