Identification of theCOL2A1Mutation in Patients with Type I Stickler Syndrome Using RNA from Freshly Isolated Peripheral White Blood Cells
Author:
Affiliation:
1. Department of Ophthalmology, Kanazawa Medical University School of Medicine, Uchinada, Ishikawa, Japan.
2. Department of Biochemistry, Kanazawa Medical University School of Medicine, Uchinada, Ishikawa, Japan.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical),General Medicine
Link
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0138
Reference33 articles.
1. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
2. Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): Variations in the nucleotide sequences of the alleles from three chromosomes
3. Structure of cDNA clones coding for human type II procollagen. The α 1(II) chain is more similar to the α 1(I) chain than two other α chains of fibrillar collagens
4. A Regulatory Mechanism That Detects Premature Nonsense Codons in T-cell Receptor Transcripts in Vivo Is Reversed by Protein Synthesis Inhibitors in Vitro
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