Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology
Reference8 articles.
1. The human collagen mutation database 1998;Dalgleish;Nucleic Acids Research,1998
2. Premature chain termination is a unifying mechanism for COL1A1 null alleles in Osteogenesis Imperfecta type I cell strains;Willing;American Journal of Human Genetics,1996
3. Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations
4. Haplotype analysis of collagen type I genes in the general population and in Osteogenesis Imperfecta;Mottes;American Journal of Medical Genetics,1993
5. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type Iα1 gene;Grant;Nature Genetics,1996
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