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J-GLOBAL ID：201702241627531151 整理番号：17A1116514

仲介はt RNAイソペンテニルトランスフェラーゼ(TRIT1)遺伝子の二対立遺伝子突然変異に起因する常染色体劣性ミトコンドリア病の診断を促進する【Powered by NICT】

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

著者 (32件)：

Kernohan Kristin D.

(Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada)

Dyment David A.

(Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada)

Dyment David A.

(Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada)

Pupavac Mihaela

(Department of Human Genetics, McGill University, Montreal, Quebec, Canada)

Cramer Zvi

(Department of Human Genetics, McGill University, Montreal, Quebec, Canada)

McBride Arran

(Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada)

Bernard Genevieve

(Department of Human Genetics, McGill University, Montreal, Quebec, Canada)

Straub Isabella

(Department of Human Genetics, McGill University, Montreal, Quebec, Canada)

Tetreault Martine

(McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada)

Hartley Taila

(Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada)

Huang Lijia

(Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada)

Sell Erick

(Division of Neurology, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada)

Majewski Jacek

(Department of Human Genetics, McGill University, Montreal, Quebec, Canada)

Majewski Jacek

(McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada)

Rosenblatt David S.

(Department of Human Genetics, McGill University, Montreal, Quebec, Canada)

Shoubridge Eric

(Department of Human Genetics, McGill University, Montreal, Quebec, Canada)

Mhanni Aziz

(Section of Genetics and Metabolism, Children’s Hospital and the Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada)

Myers Tara

(Department of Pediatrics, Children’s Mercy Hospitals, Kansas City, Missouri)

Proud Virginia

(Division of Medical Genetics and Metabolism, Children’s Hospital of the King’s Daughters, Norfolk, Virginia)

Vergano Samanta

(Division of Medical Genetics and Metabolism, Children’s Hospital of the King’s Daughters, Norfolk, Virginia)

Spangler Brooke

(Division of Medical Genetics and Metabolism, Children’s Hospital of the King’s Daughters, Norfolk, Virginia)

Farrow Emily

(Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, Missouri)

Farrow Emily

(University of Missouri-Kansas City School of Medicine, Kansas City, Missouri)

Kussman Jennifer

(Department of Pediatrics, Children’s Mercy Hospitals, Kansas City, Missouri)

Safina Nicole

(Department of Pediatrics, Children’s Mercy Hospitals, Kansas City, Missouri)

Care4Rare Consortium

(Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada)

Saunders Carol

(Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, Missouri)

Saunders Carol

(University of Missouri-Kansas City School of Medicine, Kansas City, Missouri)

Boycott Kym M.

(Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada)

Boycott Kym M.

(Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada)

Thiffault Isabelle

(Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, Missouri)

Thiffault Isabelle

(University of Missouri-Kansas City School of Medicine, Kansas City, Missouri)

資料名：

Human Mutation (Human Mutation)

巻： 38 号： 5 ページ： 511-516 発行年： 2017年
JST資料番号： W2601A ISSN： 1059-7794 資料種別：逐次刊行物 (A)
記事区分：原著論文発行国：アメリカ合衆国 (USA) 言語：英語 (EN)

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