Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia.
Shaw
Marie A
MA
McDonough
Barbara
B
Hodess
Arthur B
AB
Harter
Donald H
DH
Gécz
Jozef
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA; D014157:Transcription Factors
D004272:DNA, Mitochondrial; D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors