Please use this identifier to cite or link to this item: 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
Appears in Collections:Aurora harvest
Paediatrics publications

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