Title : [Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I].

Pub. Date : 2009 Feb

PMID : 19199251






1 Functional Relationships(s)
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1 RESULTS: A missense mutation of GAT>CAT was identified at codon 1441 of the COL1A1 gene from the family, which resulted in the replacement of aspartic acid by histidine (D1441H). Histidine catalase Homo sapiens