文献
J-GLOBAL ID:201702238571289105
整理番号:17A1431153
脳海綿状奇形における病原性深部イントロンスプライス変異の探索のためのCCM1/KRIT1,CCM2およびCCM3/PDCD10の全ゲノム領域のハイスループット配列決定【Powered by NICT】
High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations
著者 (8件):
Rath Matthias
(Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany)
,
Jenssen Sonke E.
(Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany)
,
Schwefel Konrad
(Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany)
,
Spiegler Stefanie
(Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany)
,
Kleimeier Dana
(Institute for Bioinformatics, University Medicine Greifswald, Greifswald, Germany)
,
Sperling Christian
(Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany)
,
Kaderali Lars
(Institute for Bioinformatics, University Medicine Greifswald, Greifswald, Germany)
,
Felbor Ute
(Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany)
資料名:
European Journal of Medical Genetics
(European Journal of Medical Genetics)
巻:
60
号:
9
ページ:
479-484
発行年:
2017年
JST資料番号:
A1224A
ISSN:
1769-7212
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
オランダ (NLD)
言語:
英語 (EN)