caa a22 4500 469044691 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920701xx s 000 0 eng 10.1007/BF01799612 doi (NATIONALLICENCE)springer-10.1007/BF01799612 Molecular analysis of the fragile X syndrome [Elektronische Daten] [M. Hirst, S. Knight, Y. Nakahori, A. Roche, K. Davies] Summary: The molecular analysis of human X-linked disease has progressed rapidly over the last few years owing to advances in power of mapping techniques. Physical DNA maps covering more than 5 million base pairs have been constructed for several chromosomal regions. Many of these regions have now also been cloned into overlapping cosmid and YAC contigs facilitating the search for disease genes. The recent identification of the mutation in the fragile X syndrome is such an example of the power of YAC technology in the characterization of human genetic disease mutations. SSIEM and Kluwer Academic Publishers, 1992 Hirst M. Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut Knight S. Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut Nakahori Y. Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut Roche A. Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut Davies K. Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 532-538 0141-8955 15:4<532 1992 15 10545 https://doi.org/10.1007/BF01799612 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799612 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hirst M. Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut NATIONALLICENCE 700 1- Knight S. Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut NATIONALLICENCE 700 1- Nakahori Y. Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut NATIONALLICENCE 700 1- Roche A. Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut NATIONALLICENCE 700 1- Davies K. Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 532-538 0141-8955 15:4<532 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer