𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of point mutations in the aminopeptidase N gene by SSCP analysis and sequencing

✍ Scribed by Uwe Lendeckel; Thomas Wex; Marco Arndt; Karin Frank; Astrid Franke; Siegfried Ansorge


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
378 KB
Volume
11
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of twenty-one new mutatio
✍ J.M. Montejo; M. MagallΓ³n; E. Tizzano; J. Solera πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 293 KB πŸ‘ 2 views

In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin. It included single-strand conformation polymorphism (SSCP) analysis of all functional regions of the gene and further sequencing of all fragments showing abnormal migration. In 76 patients (90.4%), it

Detection of mutations in the COL4A5 gen
✍ Jens Michael Hertz; Inger Juncker; Ulf Persson; Gert Matthijs; JΓΆrg Schmidtke; M πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 260 KB

Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the a5-chain of typ

Detection of germline mutations in the B
✍ Anna Jakubowska; Bohdan GΓ³rski; Tomasz Byrski; Tomasz Huzarski; Jacek Gronwald; πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 305 KB

## Communicated by Riccardo Fodde BRCA1 mutation detection is expensive and has sensitivity limitations, which might at least partially be overcome by RNA-based sequencing. There are claims that RNA tests are unreliable due to differential splicing, exon skipping, or nonsense-mediated mRNA decay t

Numerical aberration and point mutation
✍ Yoshihito Gomyo; Mitsuhiko Osaki; Nobuaki Kaibara; Hisao Ito πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 French βš– 799 KB

This study examined p53 gene alterations in human gastric mucosa, intestinal metaplasia and well-differentiated (cohesive type) adenocarcinomas to clarify to the role of the p53 gene in gastric tumorigenesis by means of fluorescence in situ hybridization (FISH), polymerase-chain-reaction-single-stra