Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-015-9903-z.pdf
Reference109 articles.
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3. Beighton P, Kozlowski K (1980) Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. Skelet Radiol 5:205–212
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5. Budde BS, Mizumoto S, Kogawa R et al (2015) Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. Hum Genet 134:691–704
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