Novel Mutation in the MECP2 Gene Identified in a Group of Rett Syndrome Patients from Ukraine
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Published:2018-07
Issue:4
Volume:52
Page:294-298
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ISSN:0095-4527
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Container-title:Cytology and Genetics
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language:en
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Short-container-title:Cytol. Genet.
Author:
Chernushyn S.,Gulkovskyi R.,Livshits L.
Subject
Genetics,Agricultural and Biological Sciences (miscellaneous),Cell Biology
Reference18 articles.
1. Hagberg, B., Rett’s syndrome: prevalence and impact on progressive severe mental retardation in girls, Acta Paediatr. Scand., 1985, vol. 74, no. 3, pp. 405–408. 2. Neul, J.L., Kaufmann, W.E., Glaze, D.G., Christodoulou, J., Clarke, A.J., Bahi-Buisson, N., Leonard, H., Bailey, M.E., Schanen, N.C., Zappella, M., Renieri, A., Huppke, P., and Percy, A.K., Rett syndrome: revised diagnostic criteria and nomenclature, Ann. Neurol., 2010, vol. 68, no. 6, pp. 944–50. doi 10.1002/ana.22124 3. Moog, U., Smeets, E.E., van Roozendaal, K.E., Schoenmakers, S., Herbergs, J., Schoonbrood-Lenssen, A.M., and Schrander-Stumpel, C.T., Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2), Eur. J. Paediatr. Neurol., 2003, vol. 7, no. 1, pp. 5–12. 4. Ellison, K.A., Fill, C.P., Terwilliger, J., DeGennaro, L.J., Martin-Gallardo, A., Anvret, M., Percy, A.K., Ott, J., and Zoghbi, H., Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis, Am. J. Hum. Genet., 1992, vol. 50, no. 2, pp. 278–287. 5. Schanen, N.C., Dahle, E.J., Capozzoli, F., Holm, V.A., Zoghbi, H.Y., and Francke, U.A., A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map, Am. J. Hum. Genet., 1997, vol. 61, pp. 634–641.
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