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Issue Date
Title
Author(s)
2004
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia
Shaw, M.
;
Gecz, J.
;
McDonough, B.
;
Hodess, A.
;
Harter, D.
2003
Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not
Gecz, J.
;
Shaw, M.
;
Bellon, J.
;
de Barros Lopes, M.
2003
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4
Shaw, M.
;
Brunetti-Pierre, N.
;
Kadasi, L.
;
Kovacova, V.
;
van Maldergem, L.
;
De Brasi, D.
;
Salerno, M.
;
Gecz, J.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
2003
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)
Savarirayan, R.
;
Thompson, E.
;
Gecz, J.
2000
Gene structure and expression study of the SEDL gene for Spondyloepiphyseal Dysplasia Tarda
Gecz, J.
;
Hillman, M.
;
Gedeon, A.
;
Cox, T.
;
Baker, E.
;
Mulley, J.
Discover
Author
3
Shaw, M.
2
Gedeon, A.
1
Baker, E.
1
Bellon, J.
1
Brunetti-Pierre, N.
1
Carrel, L.
1
Cox, T.
1
de Barros Lopes, M.
1
De Brasi, D.
1
Dozier, D.
.
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Subject
6
Humans
5
Carrier Proteins
5
Osteochondrodysplasias
4
Mutation
3
Male
3
Pedigree
2
Adult
2
Base Sequence
2
Exons
2
Frameshift Mutation
.
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Date issued
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