A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate
Author:
Affiliation:
1. Guangzhou Medical University, P.R. China
Publisher
FapUNIFESP (SciELO)
Subject
Genetics,Molecular Biology
Link
http://www.scielo.br/pdf/gmb/v44n2/1415-4757-GMB-44-2-e20200334.pdf
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3. Genetic heterogeneity in families with hereditary multiple exostoses;Cook A;Am J Hum Genet,1993
4. Cell biology of osteochondromas: Bone morphogenic protein signalling and heparan sulfates;Cuellar A;Int Orthop,2013
5. Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping;Divina P;Eur J Hum Genet,2009
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