𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis

✍ Scribed by Sif Jonsdottir; Carol Diamond; Barbara Levinson; Sigmundur Magnusson; Olafur Jensson; Jane Gitschier


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
266 KB
Volume
1
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Detection of RET mutations in multiple e
✍ Michael L. Peacock; Marilyn J. Borst; Jason D. Sweet; Ruth A. Decker πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 465 KB πŸ‘ 1 views

Communicated by Kenneth K. Kidd Gennline missense mutations within the coding region of the RET proto-oncogene have recently been described in patients with the dominantly inherited cancer syndromes, multiple endocrine neoplasia type 2a (MEN 2a) and familial medullary thyroid carcinoma (FMTC). To da

Complete scanning of the CDK4 gene by de
✍ Per Guldberg; Alexei F. Kirkin; Kirsten GrΓΈnbΓ¦k; Per thor Straten; Vibeke Ahrenk πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 French βš– 60 KB πŸ‘ 2 views

The cyclin-dependent kinase 4 (CDK4) is a key component in regulation of the mammalian cell cycle. The recent discovery of a common missense mutation (Arg24Cys) in both sporadic and familial forms of malignant melanoma strongly supports the candidacy of CDK4 as a proto-oncogene. To study further the

A germline mutation in the Von Hippel-Li
✍ Orit Jakobovitz-Picard; David Olchovsky; Ofer Nativ; Murray B. Resnick; Gideon R πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 12 KB πŸ‘ 2 views

30 cycles, denaturation 94 (1 min) annezling 58 (1 Min.) extension 72 (1 min.), magnesium concentration 1.5mM, electrophoresis: 58 degrees celsius, 16 hours, 80 volts,

Exhaustive analysis of the P53 gene codi
✍ J. M. Pignon; I. Vinatier; P. Fanen; P. Jonveaux; O. Tournilhac; M. Imbert; H. R πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 758 KB

We report the set-up of a denaturant gradient gel electrophoresis (DGGE) assay to screen for mutations in the whole coding sequence of the p53 gene. These DGGE experimental conditions were applied to the analysis of the p53 gene in acute leukemias. Forty adults with acute myelogenous leukemia (AML)

A novel mutation L1425p in the GAP-regio
✍ Hartmut Peters; D. Hess; R. Fahsold; M. SchΓΌlke πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 43 KB πŸ‘ 1 views

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an incidence of between 1: 3000 and 1: 4000. Common clinical signs include more than six cafΓ©-au-lait spots, multiple cutaneous neurofibromas and iris Lisch nodules. Rarer are skeletal anomalies, learning disabilities and an incre