The Arg 519 -Cys mutation in type II collagen results in severe, precocious familial osteoarthritis (OA) in 100% of carriers within the first 3 decades of life. The carrier population provided a well-defined patient population for the study of serum markers of familial OA with respect to pathogenesi
β¦ LIBER β¦
Spondyloepiphyseal dysplasia in a cape town family: Linkage with the gene for type II collagen (COL2A1)
β Scribed by Ramesar, Rajkumar ;Beighton, Peter
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 666 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0148-7299
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## Pelmen Kniest dysplasia is a severe form of spondyloepiphyseal dysplasia with short-trunk dwarfism, kyphosc?liosis, enlarged joints, midface hypoplasia, cleft palate, myopia, and deafness (Spranger et al., 1994). Heterozygous mutations of COL2A1 that encodes the a1 (11) chains of type I1 collage
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