Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.
Okajima T, Fukumoto S, Furukawa K, Urano T.
Okajima T, et al.
J Biol Chem. 1999 Oct 8;274(41):28841-4. doi: 10.1074/jbc.274.41.28841.
J Biol Chem. 1999.
PMID: 10506123
Free article.
Recently, we isolated cDNA of the galactosyltransferase I (XGalT-1) (Okajima, T., Yoshida, K., Kondo, T., and Furukawa, K. (1999) J. Biol. Chem. 274, 22915-22918). Therefore, we analyzed mutations in this gene of a patient with progeroid type E-D syndrome by …
Recently, we isolated cDNA of the galactosyltransferase I (XGalT-1) (Okajima, T., Yoshida, K., Kondo, T., and Furukawa, …