Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75?Cys mutation in the procollagen type II gene (COL2A1)

Author:

Williams Charlene J.,Considine Eileen L.,Knowlton Robert G.,Reginato Antonio,Neumann Guillermo,Harrison David,Buxton Paul,Jimenez Sergio,Prockop Darwin J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference41 articles.

1. Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ, (1991) Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 88:6624?6627

2. Ahmad NN, McDonald-McGinn DM, Zakai EH, Knowlton RG, LaRossa D, Dimascio J, Prockop DJ (1992) A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet 52:39?45

3. Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop D (1990) Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc Natl Acad Sci USA 87:6565?6568

4. Anderson U, Goldberg RB, Marion RW, Upholt WB, Tsipouras P (1990) Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2A1). Am J Hum Genet 46:896?901

5. Barber HS (1960) An unusual form of familial osteodystrophy. Lancet II: 1220?1221

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