Author:
Yamaguchi-Kabata Yumi, ,Yasuda Jun,Uruno Akira,Shimokawa Kazuro,Koshiba Seizo,Suzuki Yoichi,Fuse Nobuo,Kawame Hiroshi,Tadaka Shu,Nagasaki Masao,Kojima Kaname,Katsuoka Fumiki,Kumada Kazuki,Tanabe Osamu,Tamiya Gen,Yaegashi Nobuo,Kinoshita Kengo,Yamamoto Masayuki,Kure Shigeo
Funder
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference107 articles.
1. Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O’Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP (2015) Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res 25:305–315.
https://doi.org/10.1101/gr.183483.114
2. Beaudet AL, O’Brien WE, Bock HG, Freytag SO, Su TS (1986) The human argininosuccinate synthetase locus and citrullinemia. Adv Hum Genet 15:161–196, 291–2
3. Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 3:65ra4.
https://doi.org/10.1126/scitranslmed.3001756
4. Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J (2004) Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 25:495–520.
https://doi.org/10.1016/j.mam.2004.06.004
5. Brown NF, Mullur RS, Subramanian I, Esser V, Bennett MJ, Saudubray JM, Feigenbaum AS, Kobari JA, Macleod PM, McGarry JD, Cohen JC (2001) Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme. J Lipid Res 42:1134–1142
Cited by
7 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献