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
- 1 January 1998
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 62 (1) , 98-110
- https://doi.org/10.1086/301689
Abstract
No abstract availableKeywords
This publication has 40 references indexed in Scilit:
- Sequence specificity in CpG mutation hotspotsFEBS Letters, 1996
- Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.Journal of Clinical Investigation, 1996
- COLLAGENS: Molecular Biology, Diseases, and Potentials for TherapyAnnual Review of Biochemistry, 1995
- Detection of mismatched bases in double stranded DNA by gel electrophoresisElectrophoresis, 1995
- Highly conserved sequences in the 3′‐untranslated region of the COL1A1 gene bind cell‐specific nuclear proteinsFEBS Letters, 1991
- Structural and functional analysis of the first intron of the human α2(I) collagen-encoding geneGene, 1990
- Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human proα 1(I) collagen gene (COL1A1)Gene, 1988
- The Structure of the Chicken α2 Collagen GeneaAnnals of the New York Academy of Sciences, 1985
- Structure of a cDNA for the pro.alpha.2 chain of human type I procollagen. Comparison with chick cDNA for pro.alpha.2(I) identifies structurally conserved features of the protein and the geneBiochemistry, 1983
- Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Nature, 1970