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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
1

The Marfan syndrome and related phenotypes : delineation of various phenotypes and analysis of the fibrillin gene (FBN1) for putative mutations / by Lesley Carole Ades.

Ades, Lesley Carole January 1995 (has links)
One of the author's previously published articles is inserted. / Bibliography: leaves 174-191. / xi, 213 leaves, [15] leaves of plates : / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / A clinical and molecular study of patients with unequivocal Marfan sydnrome, or with an undiagnosed connective tissue disorder with some features in common with Marfan syndrome. Presents the phenotype of six Marfan patients with an FBN1 mutation, patients with Shprintzen-Goldberg syndrome or furlong syndrome, and two children with congenital aneurysms. Details the molecular screening of 44% of the FBN1 gene coding sequence for putative mutations. / Thesis (M.D.)--University of Adelaide, Dept. of Paediatrics, 1995

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