Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients withUSH2Amonoallelic mutations on Sanger sequencing

Direct sequencing of PCR products derive

Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta

✍ Jiapiao Zhuang; Gerard Tromp; Helena Kuivaniemi; Salvador Castells; Merete Bugge 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 1004 KB

Communicated by Cha& I. Epstein More than 150 mutations in the genes for type I procollagein have been found in unrelated patients with osteogenesis imperfecta (01), but mutations have been difficult to define in many patients with the mildest forms of the disease. Here, we have used robotically aut