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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

✍ Scribed by Jarmo Körkkö; Leena Ala-Kokko; Anne De Paepe; Lieve Nuytinck; James Earley; Darwin J. Prockop1

Book ID: 119982105
Publisher: American Society of Human Genetics
Year: 1998
Tongue: English
Weight: 443 KB
Volume: 62
Category: Article
ISSN: 0002-9297
DOI: 10.1086/301689

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Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clin