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Article

Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not.

Gene - 27 Nov 2003

Gécz Jozef, Shaw Marie A, Bellon Jennifer R, de Barros Lopes Miguel

Abstract excerpt

X-linked spondyloepiphyseal dysplasia tarda (SEDT, or SEDL) is a primary skeletal dysplasia affecting mostly spinal vertebral bodies and epiphyses. Previously, we have identified the SEDL gene and determined the spectrum of 21 different SEDL causing mutations. The SEDL gene is a highly conserved gene with an as yet unknown function. The yeast SEDL protein ortholog, Trs20p, has been isolated as a member of a large...

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Identifiers

PMID: 14597397
DOI: 10.1016/s0378-1119(03)00819-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not.PMID 14597397Read ↗

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