A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate

Author:

Xian Caixia1,Zhu Mingwei1ORCID,Nong Tianying1,Li Yiqiang1,Xie Xingmei1,Li Xia1,Li Jiangui1,Li Jingchun1,Wu Jianping1,Shi Weizhe1,Wei Ping1,Xu Hongwen1,Tang Ya-ping1

Affiliation:

1. Guangzhou Medical University, P.R. China

Publisher

FapUNIFESP (SciELO)

Subject

Genetics,Molecular Biology

Reference25 articles.

1. Deciphering the splicing code;Barash Y;Nature,2010

2. Multiple osteochondromas;Bovée JV;Orphanet J Rare Dis,2008

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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