Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria

Two new recurrent nucleotide mutations i

Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent

✍ Jarmo Körkkö; Helena Kuivaniemi; Petteri Paassilta; Jiapiao Zhuang; Gerard Tromp 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 239 KB 👁 1 views

Previous observations on mutations causing osteogenesis imperfecta (0I) 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. Th