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Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia
Author(s) -
Shaw Marie A.,
McDonough Barbara,
Hodess Arthur B.,
Harter Donald H.,
Gécz Jozef
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30161
Subject(s) - medicine , medical school , family medicine , medical education