文献
J-GLOBAL ID:201202233912116427
整理番号:12A0888346
プレmRNAのスプライセオソーム複合体の構成成分SF3B4のハプロ不全はNager症候群を引き起こす
Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
著者 (29件):
BERNIER Francois P.
(Dep. of Medical Genetics, Univ. of Calgary, Calgary AB T3B 6A8, CAN)
,
BERNIER Francois P.
(Alberta Children’s Hospital Res. Inst., Calgary, AB T3B 6A8, CAN)
,
CALUSERIU Oana
(Dep. of Medical Genetics, Univ. of Calgary, Calgary AB T3B 6A8, CAN)
,
NG Sarah
(Dep. of Genome Sciences, Univ. of Washington, Seattle, WA 98195, USA)
,
SCHWARTZENTRUBER Jeremy
(McGill Univ. and Genome Quebec Innovation Centre, Montreal, QC H3A 0G1, CAN)
,
BUCKINGHAM Kati J.
(Dep. of Pediatrics, Univ. of Washington, Seattle, WA 98105, USA)
,
INNES A. Micheil
(Dep. of Medical Genetics, Univ. of Calgary, Calgary AB T3B 6A8, CAN)
,
INNES A. Micheil
(Alberta Children’s Hospital Res. Inst., Calgary, AB T3B 6A8, CAN)
,
JABS Ethylin Wang
(Dep. of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA)
,
INNIS Jeffrey W.
(Departments of Human Genetics and Pediatrics, Univ. of Michigan, Ann Arbor, MI 48109, USA)
,
SCHUETTE Jane L.
(Departments of Human Genetics and Pediatrics, Univ. of Michigan, Ann Arbor, MI 48109, USA)
,
GORSKI Jerome L.
(Departments of Child Health and Pathology and Anatomical Sciences, Univ. of Missouri-Columbia School of Medicine ...)
,
BYERS Peter H.
(Dep. of Pathology, Univ. of Washington, Seattle, WA 98195, USA)
,
ANDELFINGER Gregor
(Dep. of Pediatrics, Univ. de Montreal, Montreal, QC H3A 1B1, CAN)
,
SIU Victoria
(Dep. of Pediatrics, Univ. of Western Ontario, London, ON N6A 5W9, CAN)
,
LAUZON Julie
(Dep. of Medical Genetics, Univ. of Calgary, Calgary AB T3B 6A8, CAN)
,
LAUZON Julie
(Alberta Children’s Hospital Res. Inst., Calgary, AB T3B 6A8, CAN)
,
FERNANDEZ Bridget A.
(Disciplines of Genetics and Medicine, Memorial Univ. of Newfoundland, St. John’s, NL A1B 3V6, CAN)
,
MCMILLIN Margaret
(Dep. of Pediatrics, Univ. of Washington, Seattle, WA 98105, USA)
,
SCOTT Richard H.
(Dep. of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, GBR)
,
SCOTT Richard H.
(Clinical and Molecular Genetics Unit, Inst. of Child Health, London WC1N 1EH, GBR)
,
RACHER Hilary
(Dep. of Medical Genetics, Univ. of Calgary, Calgary AB T3B 6A8, CAN)
,
MAJEWSKI Jacek
(Dep. of Human Genetics, McGill Univ., Montreal, QC H3A 1B1, CAN)
,
NICKERSON Deborah A.
(Dep. of Genome Sciences, Univ. of Washington, Seattle, WA 98195, USA)
,
SHENDURE Jay
(Dep. of Genome Sciences, Univ. of Washington, Seattle, WA 98195, USA)
,
BAMSHAD Michael J.
(Dep. of Genome Sciences, Univ. of Washington, Seattle, WA 98195, USA)
,
BAMSHAD Michael J.
(Dep. of Pediatrics, Univ. of Washington, Seattle, WA 98105, USA)
,
PARBOOSINGH Jillian S.
(Dep. of Medical Genetics, Univ. of Calgary, Calgary AB T3B 6A8, CAN)
,
PARBOOSINGH Jillian S.
(Alberta Children’s Hospital Res. Inst., Calgary, AB T3B 6A8, CAN)
資料名:
American Journal of Human Genetics
(American Journal of Human Genetics)
巻:
90
号:
5
ページ:
925-933
発行年:
2012年05月04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)