Literature DB >> 10508142

Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes.

K Mangasser-Stephan1, C Tag, A Reiser, A M Gressner.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1999        PMID： 10508142

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


× No keyword cloud information.
  10 in total

1.  High-throughput SNP genotyping by allele-specific PCR with universal energy-transfer-labeled primers.

Authors:  M V Myakishev; Y Khripin; S Hu; D H Hamer
Journal:  Genome Res       Date:  2001-01       Impact factor: 9.043

2.  One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes.

Authors:  Karl Sotlar; Luis Escribano; Olfert Landt; Stefanie Möhrle; Sonia Herrero; Antonio Torrelo; Ulrich Lass; Hans-Peter Horny; Burkhard Bültmann
Journal:  Am J Pathol       Date:  2003-03       Impact factor: 4.307

3.  Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria.

Authors:  Hirokazu Ikeda; Tuneki Watanabe; Daiske Toyama; Keiichi Isoyama
Journal:  CEN Case Rep       Date:  2015-05-26

4.  Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system.

Authors:  T Funato; Y Nishiyama; N Ioritani; R Matsuki; K Yoshida; M Kaku; T Sasaki; H Ideguchi; J Ono
Journal:  J Clin Lab Anal       Date:  2000       Impact factor: 2.352

5.  Impact of hemochromatosis gene (HFE) mutations on epithelial ovarian cancer risk and prognosis.

Authors:  Philippe O Gannon; Sanae Medelci; Cécile Le Page; Martin Beaulieu; Diane M Provencher; Anne-Marie Mes-Masson; Manuela M Santos
Journal:  Int J Cancer       Date:  2011-05-15       Impact factor: 7.396

6.  Real-time PCR genotyping using displacing probes.

Authors:  Jinping Cheng; Yongyou Zhang; Qingge Li
Journal:  Nucleic Acids Res       Date:  2004-04-15       Impact factor: 16.971

7.  Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.

Authors:  Steven F Dobrowolski; Richard A Banas; Joseph G Suzow; Michelle Berkley; Edwin W Naylor
Journal:  J Mol Diagn       Date:  2003-02       Impact factor: 5.568

8.  Mutant HFE genotype leads to significant iron overload in patients with liver diseases from western Romania.

Authors:  A-M Neghina; A Anghel; I Sporea; A Popescu; R Neghina; A Collins; K Thorstensen
Journal:  J Appl Genet       Date:  2009       Impact factor: 3.240

9.  Profound morphological changes in the erythrocytes and fibrin networks of patients with hemochromatosis or with hyperferritinemia, and their normalization by iron chelators and other agents.

Authors:  Etheresia Pretorius; Janette Bester; Natasha Vermeulen; Boguslaw Lipinski; George S Gericke; Douglas B Kell
Journal:  PLoS One       Date:  2014-01-09       Impact factor: 3.240

10.  FLAG assay as a novel method for real-time signal generation during PCR: application to detection and genotyping of KRAS codon 12 mutations.

Authors:  Giulia Amicarelli; Erlet Shehi; G Mike Makrigiorgos; Daniel Adlerstein
Journal:  Nucleic Acids Res       Date:  2007-10-11       Impact factor: 16.971
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.