학술논문

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Document Type
Article
Author
Oláhová, M.Thompson, K.Holmes, M.McFarland, R.Taylor, R.W.Yoon, W.H.Bellen, H.J.Jangam, S.Yamamoto, S.Wangler, M.F.Fernandez, L.Davidson, J.M.Kohler, J.N.Dries, A.M.Huang, Y.Zhao, C.Waggott, D.Fisher, P.G.Ashley, E.A.Bernstein, J.A.Wheeler, M.T.Kyle, J.E.Zink, E.M.Kim, Y.-M.Heyman, H.M.Waters, K.M.Metz, T.O.Grove, M.E.Fisk, D.G.Merker, J.D.Contrepois, K.Zappala, Z.Snyder, M.Montgomery, S.B.Frésard, L.Cowan, T.Stratton, K.G.Webb-Robertson, B.-J.M.Feichtinger, R.G.Mayr, J.A.Hall, J.Barbosa, I.A.Simpson, M.A.Deshpande, C.Koeller, D.M.Morris, A.A.Schelley, S.Enns, G.M.Friederich, M.W.Van Hove, J.L.K.Adams, D.R.Alejandro, M.E.Allard, P.Azamian, M.S.Bacino, C.A.Balasubramanyam, A.Barseghyan, H.Batzli, G.F.Beggs, A.H.Behnam, B.Bican, A.Bick, D.P.Birch, C.L.Bonner, D.Boone, B.E.Bostwick, B.L.Briere, L.C.Brown, D.M.Brush, M.Burke, E.A.Burrage, L.C.Chen, S.Clark, G.D.Coakley, T.R.Cogan, J.D.Cooper, C.M.Cope, H.Craigen, W.J.D'Souza, P.Davids, M.Dayal, J.G.Dell'Angelica, E.C.Dhar, S.U.Dillon, A.Dipple, K.M.Donnell-Fink, L.A.Dorrani, N.Dorset, D.C.Douine, E.D.Draper, D.D.Eckstein, D.J.Emrick, L.T.Eng, C.M.Eskin, A.Esteves, C.Estwick, T.Ferreira, C.Fogel, B.L.Friedman, N.D.Gahl, W.A.Glanton, E.Godfrey, R.A.Goldstein, D.B.Gould, S.E.Gourdine, J.-P.F.Groden, C.A.Gropman, A.L.Haendel, M.Hamid, R.Hanchard, N.A.Handley, L.H.Herzog, M.R.Holm, I.A.Hom, J.Howerton, E.M.Jacob, H.J.Jain, M.Jiang, Y.-H.Johnston, J.M.Jones, A.L.Kohane, I.S.Krasnewich, D.M.Krieg, E.L.Krier, J.B.Lalani, S.R.Lau, C.C.Lazar, J.Lee, B.H.Lee, H.Levy, S.E.Lewis, R.A.Lincoln, S.A.Lipson, A.Loo, S.K.Loscalzo, J.Maas, R.L.Macnamara, E.F.MacRae, C.A.Maduro, V.V.Majcherska, M.M.Malicdan, M.C.V.Mamounas, L.A.Manolio, T.A.Markello, T.C.Marom, R.Martínez-Agosto, J.A.Marwaha, S.May, T.McConkie-Rosell, A.McCormack, C.E.McCray, A.T.Might, M.Moretti, P.M.Morimoto, M.Mulvihill, J.J.Murphy, J.L.Muzny, D.M.Nehrebecky, M.E.Nelson, S.F.Newberry, J.S.Newman, J.H.Nicholas, S.K.Novacic, D.Orange, J.S.Pallais, J.C.Palmer, C.G.S.Papp, J.C.Parker, N.H.Pena, L.D.M.Phillips, J.A.Posey, J.E.Postlethwait, J.H.Potocki, L.Pusey, B.N.Reuter, C.M.Robertson, A.K.Rodan, L.H.Rosenfeld, J.A.Sampson, J.B.Samson, S.L.Schoch, K.Schroeder, M.C.Scott, D.A.Sharma, P.Shashi, V.Silverman, E.K.Sinsheimer, J.S.Smith, K.S.Spillmann, R.C.Splinter, K.Stoler, J.M.Stong, N.Sullivan, J.A.Sweetser, D.A.Tifft, C.J.Toro, C.Tran, A.A.Urv, T.K.Valivullah, Z.M.Vilain, E.Vogel, T.P.Wahl, C.E.Walley, N.M.Walsh, C.A.Ward, P.A.Westerfield, M.Wise, A.L.Wolfe, L.A.Worthey, E.A.Yang, Y.Yu, G.Zastrow, D.B.Zheng, A.
Source
In: American Journal of Human Genetics. (American Journal of Human Genetics, 1 March 2018, 102(3):494-504)
Subject
Language
English
ISSN
15376605
00029297