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B3GAT3 gene

Known as: GLUCURONOSYLTRANSFERASE I, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3, GlcAT-I 
National Institutes of Health

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2 relations
B3GAT1 geneGalactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase

Papers overview

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2017
2017
Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies
B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations… 
2015
2015
Skeletal dysplasia with short stature and a Larsen-like phenotype due to a homozygous mutation in B3GAT3
1. Von Oettingen J, Tan WH, Dauber A. 2014: Am.J. Med. Genet 164A,1580-6 2. Baasanjav S, Al-Gazali L, Hashiguchi T et al. , Am J… 
2015
2015
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3
We describe a large family with disproportionate short stature and bone dysplasia from Nias in which we observed differences in… 
2004
2004
Temperature-sensitive Glycosaminoglycan Biosynthesis in a Chinese Hamster Ovary Cell Mutant Containing a Point Mutation in Glucuronyltransferase I*
In previous studies, we reported the isolation and characterization of a Chinese hamster ovary cell mutant (pgsG) defective in… 
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