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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
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
RMID: 0020042495
DOI: 10.1002/ajmg.a.30161
Appears in Collections:Paediatrics publications

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