Title : Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2.

Pub. Date : 2009 Mar

PMID : 19208385






2 Functional Relationships(s)
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1 In all of these patients, OI was caused by glycine mutations affecting exon 49 of the COL1A2 gene, which codes for the most carboxy-terminal part of the triple-helical domain of the collagen type I alpha 2 chain. Glycine collagen type I alpha 2 chain Homo sapiens
2 In all of these patients, OI was caused by glycine mutations affecting exon 49 of the COL1A2 gene, which codes for the most carboxy-terminal part of the triple-helical domain of the collagen type I alpha 2 chain. Glycine collagen type I alpha 2 chain Homo sapiens