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A single base mutation in the type II procollagen gene produces an Arg → Cys mutation in one allele of the gene in a family with spondyloepiphyseal dysplasia


Book ID
114348746
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
211 KB
Volume
1
Category
Article
ISSN
1063-4584

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Clinical Correlations of Osteoarthritis
✍ Yvonne L. Pun; Roland W. Moskowitz; Sutek Lie; Walter R. Sundstrom; Sidney R. Bl 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 588 KB

Objective. To investigate the occurrence and clinical correlation of the arg519-to-cys mutation in the type 11 procollagen gene in patients with osteoarthritis (OA). Methods. Sixty-six subjects from 7 families with a strong family history of generalized OA and 13 patients with erosive OA were evalu