Title : Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

Pub. Date : 2013 Dec

PMID : 24140640






1 Functional Relationships(s)
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1 The patient carried a heterozygous c.1316G > A (p.Gly439Asp) mutation in the COL1A2 gene located in a triple-helix region, in which glycine substitutions have been assumed to cause perinatal lethal OI (Sillence type II). Glycine collagen type I alpha 2 chain Homo sapiens