Mitchell, J J, Vekemans, M, Luscombe, S, Hayden, M, Weber, Bernhard H. F. 
, Richter, A, Sparkes, R, Kojis, T, Watters, G and Der Kaloustian, V M
(1994)
U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8.
American Journal of Medical Genetics Part A 49 (4), pp. 384-387.
Full text not available from this repository.
Abstract
A mentally retarded male with dysmorphic features was found to have a de novo 46,XY,inv dup(8) (p.23.1 → 12). Confirmation of the segments duplicated in the rearrangement was achieved by biochemical analysis of glutathione reductase, which maps to 8p21.1, and DNA studies using the chromosome specific probe y-19-1D (D85131), which maps to 8p21. Assay of cathepsin B, which has been localised to ...
Export bibliographical data
| Item type: | Article | ||||||
|---|---|---|---|---|---|---|---|
| Date: | 1994 | ||||||
| Institutions: | Medicine > Lehrstuhl für Humangenetik | ||||||
| Identification Number: |
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| Dewey Decimal Classification: | 600 Technology > 610 Medical sciences Medicine | ||||||
| Status: | Published | ||||||
| Refereed: | Yes, this version has been refereed | ||||||
| Created at the University of Regensburg: | No | ||||||
| Item ID: | 35464 |
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