Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing
Author:
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference11 articles.
1. Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.
2. 1993. Osteogenesis imperfecta. In: (eds) Connective Tissue and its Heritable Disorders. New York: Wiley-Liss; 317-350.
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. Two new recurrent nucleotide mutations in theCOL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent
5. A four base pair insertion polymorphism in the 3′ untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I
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