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Carrier detection and prenatal diagnosis in Norrie disease |
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| Authors: | Dr Diana Curtis C E Blank M A Parsons Howard N Hughes |
| Institution: | 1. Sub-department of Medical Genetics, Sheffield S10 2RX, U.K.
Department of Pathology, University of Sheffield, Sheffield S10 2RX, U.K.;2. Department of Pathology, University of Sheffield, Sheffield S10 2RX, U.K.;3. Centre for Human Genetics, 117 Manchester Road, Sheffield S10 5DN, U.K. |
| Abstract: | We report the use of DNA probes to determine carrier status in three young women from a large kindred with Norrie disease. One of the women requested prenatal diagnosis during pregnancy. In this pedigree, Norrie disease was not characterized by a deletion at DXS7. |
| Keywords: | Norrie disease DNA probes Prenatal diagnosis |