Adelaide Research & Scholarship
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https://hdl.handle.net/2440/6944
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| Type: | Journal article |
| Title: | Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia |
| Author: | Shaw, M. Gecz, J. McDonough, B. Hodess, A. Harter, D. |
| Citation: | American Journal of Medical Genetics Part A, 2004; 129(2):206-207 |
| Publisher: | Wiley-Liss |
| Issue Date: | 2004 |
| ISSN: | 1552-4825 1552-4833 |
| Keywords: | Humans Osteochondrodysplasias Optic Atrophy, Hereditary, Leber Abnormalities, Multiple Membrane Transport Proteins Transcription Factors DNA, Mitochondrial Pedigree Sequence Analysis, DNA Base Sequence Mutation, Missense Male |
| DOI: | 10.1002/ajmg.a.30161 |
| Published version: | http://dx.doi.org/10.1002/ajmg.a.30161 |
| Appears in Collections: | Aurora harvest Paediatrics publications |
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