A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta-Reference-Cited by-同舟云学术

A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta

Published:2011-11 Issue:6 Volume:13 Page:648-656
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Fuccio Antonella,Iorio Mariangela,Amato Felice,Elce Ausilia,Ingino Rosaria,Filocamo Mirella,Castaldo Giuseppe,Salvatore Francesco,Tomaiuolo Rossella

Funder

Regione Campania

Ministero dell'Istruzione, dell”Universita della Ricerca

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference30 articles.

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2. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans;Marini;Hum Mutat,2007

4. Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type 1;Rauch;Eur J Hum Genet,2010

5. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains;Willing;Am J Hum Genet,1996

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