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Arg519-Cys Mutation in COL2A1: Evidence for Multiple Founders : ARG519-CYS MUTATION IN COL2A1

✍ Scribed by J. F. Bleasel; D. Holderaum; V. Brancolini; R. W. Moskowitz; T. M. Haqqi; E. Considine; D. J. Prockop; M. Devoto; C. J. Williams


Book ID
119873788
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
132 KB
Volume
785
Category
Article
ISSN
0890-6564

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πŸ“œ SIMILAR VOLUMES


A human COL2A1 gene with an Arg519Cys mu
✍ Janne Sahlman; Marja T. PitkΓ€nen; Darwin J. Prockop; Machiko Arita; Shi-Wu Li; H πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 471 KB πŸ‘ 1 views

## Abstract ## Objective An arginine‐to‐cysteine substitution at position 519 of the __COL2A1__ gene causes early generalized osteoarthritis with mild chondrodysplasia in humans. In this study, a human __COL2A1__ gene with the same mutation was introduced into a murine genome having 1 or no allele

Five families with arginine519-cysteine
✍ Jane F. Bleasel; Daniel Holderbaum; Valeria Brancolini; Roland W. Moskowitz; Eil πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 256 KB

Arginine519-cysteine mutation in the type II procollagen gene (COL2A1) is known to be associated with mild spondyloepiphyseal dysplasia (SED) and precocious generalized osteoarthritis (OA). Five families have now been identified with this mutation. To determine whether a common founder was responsib