Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21506/fullpdf
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3. Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis;Bleasel;J Rheumatol,1995
4. Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders;Bleasel;Hum Mutat,1998
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