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(Personal, non-commercial use only. The Journal of Rheumatology. Copyrigh\
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(play a significant role in manifestation of the phenotype.)Tj
0.18291 Tw 0 -1.2 TD
(The more we know about these mutations and how they)Tj
0.0773 Tw T*
(alter tissue biochemistry and physiology the better we will)Tj
0.3465 Tw T*
(be able to define genetic factors and pathophysiologic)Tj
0.1449 Tw T*
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(REFERENCES)Tj
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0.02499 Tw 8 0 0 8 61 565.1616 Tm
[(1.)-875.1 (Ala-Kokko L, Baldwin CT)73.9 (, Moskowitz R)54.8 (W)91.8 (, Prockop DJ. Single)]TJ
1.675 -1.25 Td
(base mutation in the type II procollagen gene \(COL2A1\) as a cause)Tj
T*
(of primary osteoarthritis associated with a mild chondrodysplasia.)Tj
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[(Proc Nat )54.8 (Acad Sci USA)-220.2 (1990;87:6565-8.)]TJ
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-1.675 -1.25 Td
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1.675 -1.25 Td
[(marker of knee and hip osteoarthritis severity [abstract]. )54.8 (Arthritis)]TJ
0 Tc T*
(Rheum 2000;43 Suppl:S136.)Tj
-0.00011 Tc -1.675 -1.25 Td
[(4.)-875.1 (Kellgren JH, Lawrence JS, Bier F)79.7 (. Genetic factors in generalized)]TJ
0 Tc 1.675 -1.25 Td
[(osteoarthritis. )54.9 (Ann Rheum Dis 1963;22:237-55.)]TJ
-0.00011 Tc -1.675 -1.25 Td
[(5.)-875.1 (Lindber)17.7 (g H. Prevalence of primary coxarthrosis in siblings of)]TJ
1.675 -1.25 Td
(patients with primary coxarthrosis. Clin Orthop Rel Res)Tj
0 Tc 0 Tw T*
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-0.00011 Tc 0.02499 Tw -1.675 -1.25 Td
[(6.)-875.1 (Chitnavis J, Sinsheimer JS, Clipsham K, et al. Genetic influences in)]TJ
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(end-stage osteoarthritis: sibling risks of hip and knee replacement)Tj
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[(for idiopathic osteoarthritis. J Bone Joint Sur)17.7 (g Br 1997;79:660-4.)]TJ
-1.675 -1.25 Td
[(7.)-875.1 (W)39.8 (right GD, Hughes )54.8 (AE, Regan M, Doherty M. )54.8 (Association of two)]TJ
1.675 -1.25 Td
[(loci on chromosome 2q with nodal osteoarthritis. )54.8 (Ann Rheum Dis)]TJ
0 Tc 0 Tw T*
(1996;55:317-9.)Tj
-0.00011 Tc 0.02499 Tw -1.675 -1.25 Td
[(8.)-875.1 (Stankovich J, Sale MM, Bahlo M, et al. Investigation of )]TJ
1.675 -1.25 Td
(chromosome 2q in osteoarthritis: no significant linkage in a)Tj
0 Tc T*
[(T)70 (asmanian population. )54.8 (Ann Rheum Dis 2002;61:1081-4.)]TJ
-0.00011 Tc 31.325 46.171 Td
[(9.)-875.1 (Pun )36.8 (YL, Moskowitz R)54.8 (W)91.9 (, Lie S, et al. Clinical correlations of)]TJ
1.675 -1.25 Td
[(osteoarthritis associated with a single-base mutation \(ar)17.7 (ginine 519)]TJ
T*
[(to cysteine\) in type II procollagen gene. )54.8 (A)-220.1 (newly defined )]TJ
T*
[(pathogenesis. )54.8 (Arthritis Rheum 1994;37:264-9.)]TJ
-2.175 -1.25 Td
[(10.)-875.1 (W)39.8 (illiams CJ, Rock M, Considine E, et al. )17.7 (Three new point )]TJ
2.175 -1.25 Td
(mutations in type II procollagen \(COL2A1\) and identification of a)Tj
T*
[(fourth family with the COL2A1 )54.8 (Ar)17.7 (g519\321>Cys base substitution)]TJ
T*
(using conformation sensitive gel electrophoresis. Hum Mol Genet)Tj
0 Tc 0 Tw T*
(1995;4:309-12.)Tj
-0.00011 Tc 0.02499 Tw -2.1381 -1.25 Td
[(1)36.8 (1)-0.1 (.)-875.1 (Holderbaum D, Bleasel JF)79.7 (, Jonsson H, et al. )54.8 (Ar)17.7 (g519-Cys-associated)]TJ
2.1381 -1.25 Td
(haplotype in Icelandic family suggests early origin of this mutation.)Tj
T*
(Matrix Biol 1996;15:178.)Tj
-2.175 -1.25 Td
[(12.)-875.1 (Bleasel JF)79.7 (, Holderbaum D, Brancolini )17.7 (V)128.9 (, et al. Five families with)]TJ
2.175 -1.25 Td
[(ar)17.7 (ginine 519-cysteine mutation in COL2A1: evidence for three)]TJ
T*
(distinct founders. Hum Mutat 1998;12:172-6.)Tj
-2.175 -1.25 Td
[(13.)-875.1 (Chan D, )17.7 (T)69.9 (aylor )17.7 (TKF)79.7 (, Cole )17.7 (WG. Characterization of an ar)17.7 (ginine 789)]TJ
2.175 -1.25 Td
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(\002)Tj
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-0.00011 Tc 0.02499 Tw [0.1 (1 \(II\) collagen chains of a patient with)]TJ
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(spondyloepiphyseal dysplasia. J Biol Chem 1993;268:15238-45. )Tj
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[(14.)-875.1 (W)39.8 (illiams CJ, Considine EL, Knowlton RG, et al.)]TJ
2.175 -1.25 Td
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T*
[(family with an )54.8 (Ar)17.7 (g75\320Cys mutation in the procollagen type II gene)]TJ
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(\(COL2A1\). Hum Genet 1993;92:499-505.)Tj
-2.175 -1.25 Td
[(15.)-875.1 (Bleasel JF)79.7 (, Bisagni-Faure )54.8 (A, Holderbaum D, et al. )17.7 (T)69.9 (ype II )]TJ
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-2.175 -1.25 Td
[(16.)-875.1 (Bleasel JF)79.7 (, Holderbaum D, Mallock )17.7 (V)128.9 (, Haqqi )17.7 (TM, )17.7 (W)39.8 (illiams HJ,)]TJ
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[(D, Corr MP)110.7 (. )54.8 (An ar)17.7 (ginine-glycine mutation in a family with a newly)]TJ
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[(and unaf)17.7 (fected individuals. )17.7 (T)69.9 (o be presented, Orthopaedic Research)]TJ
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[(Society)64.8 (, San Francisco, March 2004.)]TJ
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