Title : Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation.

Pub. Date : 2000 May

PMID : 10807697






2 Functional Relationships(s)
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1 The fact that the mutation resides within a so called "non-lethal" region of the alpha2(I) collagen chain supports a regional model in phenotypic severity for alpha2(I) collagen mutations, in which the phenotype is determined primarily by the nature of the collagen domain rather than the type of glycine substitution involved. Glycine collagen type I alpha 2 chain Homo sapiens
2 The fact that the mutation resides within a so called "non-lethal" region of the alpha2(I) collagen chain supports a regional model in phenotypic severity for alpha2(I) collagen mutations, in which the phenotype is determined primarily by the nature of the collagen domain rather than the type of glycine substitution involved. Glycine collagen type I alpha 2 chain Homo sapiens