Article
Next generation diagnostics of heritable connective tissue disorders.
Matrix biology : journal of the International Society for Matrix Biology - 1 Jan 2014
Salam Amr, Simpson Michael A, Stone Kristina L, Takeichi Takuya, Nanda Arti, Akiyama Masashi, McGrath John A
Abstract excerpt
Finding pathogenic mutations in monogenic diseases represents one of the significant milestones of late 20th century molecular genetics. Mutation data can improve genetic counseling, assist disease modeling and provide a basis for translational research and therapeutics. The logistics of detecting disease mutations, however, has not always been easy or straightforward. Traditional approaches using genetic linkage...
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