Associated Papers
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
Zhang C et al.
Bmc Medical Genetics, 2020
[Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda].
Lu JF et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not.
Gécz J et al.
Gene, 2003
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.
Shaw MA et al.
Clinical Genetics, 2003
An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda.
Takahashi T et al.
Clinical Genetics, 2002
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Gedeon AK et al.
American Journal of Human Genetics, 2001
Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.
Gécz J et al.
Genomics, 2000
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