𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mosaic mutation detection: finding the rare ones

✍ Scribed by Mats Nilsson


Book ID
102264819
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
75 KB
Volume
30
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Independent mutational events are rare i
✍ Midori Mitui; Catarina Campbell; Gabriela Coutinho; Xia Sun; Chih-Hung Lai; Yvon πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 183 KB πŸ‘ 1 views

Mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T). Many different mutations have been identified using various techniques, with detection efficiencies ranging from 57 to 85%. In this study, we employed short tandem repeat (STR) haplotypes to e

PAP: Detection of ultra rare mutations d
✍ Qiang Liu; Steve S. Sommer πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 618 KB

## For the Mutation Detection 2003 Special Issue Pyrophosphorolysis-activated polymerization (PAP) was initially developed to enhance the specificity of allelespecific PCR for detection of known mutations in the presence of a great excess of wild-type allele. The high specificity of PAP derives fr

New mutations, polymorphisms, and rare v
✍ S. CastellvΓ­-Bel; S. Sheikhavandi; M. Telatar; L-Q. Tai; M. Hwang; Z. Wang; Z. Y πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 314 KB πŸ‘ 2 views

The gene for ataxia-telangiectasia, ATM, spans about 150 kb of genomic DNA. ATM mutations are found along the entire gene, with no evidence of a mutational hot spot. Using DNA as the starting material, we screened the ATM gene in 92 A-T patients, using an optimized single-strand conformation polymor

Rare mutations of the Gs alpha subunit g
✍ Katsuhiko Yoshimoto; Hiroyuki Iwahana; Ayumi Fukuda; Toshiaki Sano; Mitsuo Itaku πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 785 KB

Background. The Gs alpha (Gsa) gene can be activated to the putative oncogene gsp by specific point mutations at codons 201 or 227. Such mutations have been reported in growth hormone (GH)-secreting pituitary adenomas and thyroid tumors. To clarify the role of Gsa gene in human endocrine tumors, 197