Please use this identifier to cite or link to this item:
Scopus Web of ScienceĀ® Altmetric
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
Optic Atrophy, Hereditary, Leber
Abnormalities, Multiple
Membrane Transport Proteins
Transcription Factors
DNA, Mitochondrial
Sequence Analysis, DNA
Base Sequence
Mutation, Missense
DOI: 10.1002/ajmg.a.30161
Appears in Collections:Aurora harvest
Paediatrics publications

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.