Adelaide Research & Scholarship
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https://hdl.handle.net/2440/7221
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| Type: | Journal article |
| Title: | 1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family |
| Other Titles: | 1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family |
| Author: | Lower, K. Solders, G. Bondeson, M. Nelson, J. Brun, A. Crawford, J. Malm, G. Borjeson, M. Turner, G. Partington, M. Gecz, J. |
| Citation: | European Journal of Human Genetics, 2004; 12(10):787-789 |
| Publisher: | Nature Publishing Group |
| Issue Date: | 2004 |
| ISSN: | 1018-4813 1476-5438 |
| Statement of Responsibility: | Karen M Lower, Göran Solders, Marie-Louise Bondeson, John Nelson, Arne Brun, Joanna Crawford, Gunilla Malm, Mats Börjeson, Gillian Turner, Michael Partington and Jozef Gécz |
| Keywords: | Humans Mental Retardation, X-Linked Obesity Hypogonadism Syndrome Arginine Pedigree Point Mutation Female Male |
| DOI: | 10.1038/sj.ejhg.5201228 |
| Published version: | http://dx.doi.org/10.1038/sj.ejhg.5201228 |
| Appears in Collections: | Aurora harvest Paediatrics publications |
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