Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

Autor: Patrick Willems, Jan Hendrickx, Vibeke Winter, Alberto Ponzone, Katrine Schneiderman, Marion Mack, Teresa Parrella, Yuan Tsang Chen, Niels Gregersen, Stephen G. Kahler, Jia Huan Ding, Brage S. Andresen, Peter Bross, Wen Zhang, Riccardo Ponzone, Charles R. Roe, Thomas Deufel, Steen Kølvraa, Lars Bolund, Diana Curtis

Publikováno v: Gregersen, N, Winter, V, Curtis, D, Deufel, T, Mack, M, Hendrickx, J, Willems, P J, Ponzone, A, Parrella, T, Ponzone, R, Ding, J H, Zhang, W, Chen, Y T, Kahler, S, Roe, C R, Kølvraa, S, Schneiderman, K, Andresen, B S, Bross, P & Bolund, L 1993, ' Medium-chain Acyl-CoA dehydrogenase (MCAD) Deficiency : The prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe ', Human Heredity, vol. 43, no. 6, pp. 342-350 . https://doi.org/10.1159/000154157
Human heredity

Medium-chain acyl CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited defect of fatty acid P-oxidation. Approximately 90% of the disease-causing alleles in diagnosed patients are due to a single base mutation, an A (adenine) to G (gu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51dcb14ab037450fe39852da24ba0159
https://doi.org/10.1159/000154157

Subject Index, Vol. 43, 1993

Autor: J. Ott, David A. Greenberg, C. Triantaphyllidis, Patrick Willems, S. Linn, Yuan Tsang Chen, C. Mérette, Riccardo Ponzone, G.K. Penchaszadeh, L.H. Castüla, Jia-Huan Ding, V.A. Stepanov, J. Papamatheakis, E. Lieberman, Vibeke Winter, K. Das, Niels Gregersen, Brage S. Andresen, Thomas Deufel, Susan E. Hodge, P.W. Kleyn, Ivan Balazsc, Veronica J. Vieland, Elias O. da-Suva, Marion Mack, S.J. O’Brien, A. Kouvatsi, M. Fousteri, G. Hallmans, Xin Zhenghan, N.P. Anagnou, T.C. Gilliam, Diana Curtis, N.K. Moschonas, T.L. Munsat, Jan Hendrickx, L. Beckman, A. Petalopoulos, Steen Kølvraa, S.C. Schoenbaum, Lars Bolund, Peter Bross, C. Sikström, Liu Mingjun, K. Asplund, S.V. Lemza, G. Beckman, H. Seuanez, Wen Zhang, T. Lehner, Charles R. Roe, Teresa Parrella, Stephen G. Kahler, L.M. Brzustowicz, Katrine Schneiderman, Alberto Ponzone, W. Modi

Publikováno v: Human Heredity. 43:393-394

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::531f7350ecbc39bd73ab94a4e7517fd2
https://doi.org/10.1159/000154167