Article
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent.
Human mutation - 1 Jan 1997
Körkkö J, Kuivaniemi H, Paassilta P, Zhuang J, Tromp G, DePaepe A, Prockop D J, Ala-Kokko L
Abstract excerpt
Previous observations on mutations causing osteogenesis imperfecta (OI) suggested that unrelated patients had private mutations. Here preliminary studies on two patients with type I OI indicated that some mutations in the COL1A1 gene for type I procollagen cannot be detected by analyses of cDNAs. Therefore, we developed a protocol whereby 43 exon and exon flanking sequences of the COL1A1 gene can be amplified by...
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