✦ LIBER ✦

Automated sequence screening of the entire dystrophin cdna in Duchenne dystrophy: Point mutation detection

✍ Scribed by Sherifa Ahmed Hamed; Eric P. Hoffman

Book ID: 101453348
Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 162 KB
Volume: 141B
Category: Article
ISSN: 1552-4841
DOI: 10.1002/ajmg.b.30234

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Detection of point mutation in dystrophi

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

✍ Essen, Anthonie J. van ;Mulder, Inge M. ;Vlies, Pieter van der ;Hout, Annemarie 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 66 KB 👁 2 views

Detection of seven point mutations in th

Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA

✍ C. S. Mgone; W. G. Lanyon; M. R. Moore; J. M. Connor 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 586 KB

Direct cDNA sequencing has been performed on asymmetrically amplified transcripts from the human porphobilinogen deaminase gene. Lymphocytes from 30 patients with acute intermittent porphyria were the source of mRNA; of the seven separate point mutations detected, three were silent, whereas four res

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