Article
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
Journal of medical genetics - 1 May 2006
Hoornaert K P, Dewinter C, Vereecke I, Beemer F A, Courtens W, Fryer A, Fryssira H, Lees M, Müllner-Eidenböck A, Rimoin D L, Siderius L, Superti-Furga A, Temple K, Willems P J, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier G R
Abstract excerpt
BACKGROUND: The majority of COL2A1 missense mutations are substitutions of obligatory glycine residues in the triple helical domain. Only a few non-glycine missense mutations have been reported and among these, the arginine to cysteine substitutions predominate. OBJECTIVE: To investigate in more detail the phenotype resulting from arginine to cysteine mutations in the COL2A1 gene. METHODS: The clinical and...
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