Distinct molecular origins for Denys-Drash and Frasier syndromes
Please always quote using this URN: urn:nbn:de:bvb:20-opus-59172
- The direct involvment of the Wilm's tumor suppressor gene (WTl) in Denys-Drash syndrome through mutations within exons 8 or 9 has recently been established. The absence of such alterations in three patients with Frasier syndrome provides a molecular basis for distinguishing these two syndromes that are associated with streak gonads, pseudohermaphroditism and renal failure.
Author: | F. Poulat, D. Morin, A. Konig, P. Brun, J. Giltay, C. Sultan, R. Dumas, Manfred Gessler, P. Berta |
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URN: | urn:nbn:de:bvb:20-opus-59172 |
Document Type: | Journal article |
Faculties: | Fakultät für Biologie / Theodor-Boveri-Institut für Biowissenschaften |
Language: | English |
Year of Completion: | 1993 |
Source: | In: Human Genetics (1993) 91, S. 285 - 286. |
Dewey Decimal Classification: | 5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie |
GND Keyword: | Biochemie |
Release Date: | 2011/08/23 |
Licence (German): | Deutsches Urheberrecht |