Article
Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda.
The Biochemical journal - 25 Sept 2009
Choi Mei Y, Chan Caleb C Y, Chan Danny, Luk Keith D K, Cheah Kathryn S E, Tanner Julian A
Abstract excerpt
SEDT (spondyloepiphyseal dysplasia tarda) is a late-onset X-linked recessive skeletal dysplasia caused by mutations in the gene SEDL coding for sedlin. In the present paper, we investigated four missense mutations observed in SEDT and compare biochemical and cellular characteristics relative to the wild-type protein to address the mechanism of disease and to gain insight into the function of the sedlin protein....
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