Navigation Links
Detection of Mutations in the CYP21 Gene Using the DCode System

diagnosis, it is essential to use a technique that not only detects the most frequent previously identified point mutations but also both undefined and rare point mutations. The DGGE analysis fulfills these criteria, and therefore constitutes a fast and reliable procedure for genetic analysis of 21-hydroxylase deficiency.


References
1. Speiser, P. W., Dupont, J., Zhu, D., Serrat, J., Buegeleisen, M., Tusie-Luna, M. T., Lesser, M., New, M. I., and White, P. C., Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency, J. Clin. Invest., 90, 58495 (1992).

2. Barbat, B., Bogyo, A., Raux-Demay, M. C., Kuttenn, F., Boue, J., Simon- Bouy, B., Serre, J. L., and Mornet, E., Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency, Hum. Mutat., 5, 12630 (1995).

3. Wedell, A., Thilen, A., Ritzen, E. M., Stengler, B., and Luthman, H., Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation, J. Clin. Endocrinol. Metab., 78, 114552 (1994).

4. Ezquieta, B., Oliver, A., Gracia, R., and Gancedo, P. G., Analysis of steroid 21-hydroxylase gene mutations in the Spanish population, Hum. Genet., 96, 198204 (1995).

5. Lajic, S., and Wedell, A., An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia, Hum. Genet., 98(2):1824 (1996).

6. Levo, A., and Partanen, J., Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperp
'"/>

Source:


Page: All 1 2 3 4 5

Related biology technology :

1. Simple, Sensitive, and Rapid Detection of FLAG -Tagged Fusion Proteins
2. A New PCR-based Mycoplasma Detection Method
3. HSVision Molecular Beacon Detection Module Rapidly Detects Herpes Simplex Virus DNA
4. Detection and Identification of Phosphorylation Sites in Proteins Using LC/MS/MS with Neutral Fragment Loss Mapping
5. Detection of mRNAs on Cryosections of the Cardiovascular System Using DIG-Labeled RNA Probes
6. Gene Expression Arrays: Highly Sensitive Detection of Expression Patterns with Improved Tools for Target Amplification
7. The DIG System Nonradioactive and Highly Sensitive Detection of Nucleic Acids
8. Quantitative Measurement of Cell Proliferation Using the BrdU ELISA: A Comparison Between Colorimetric and Chemiluminescent Detection
9. Quantification of Nucleosomes in Serum by the Cell Death Detection ELISAplus
10. A Further Step in Understanding Apoptosis Direct Detection of PARP Cleavage
11. In Situ Cell Death Detection Kit
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Detection Mutations the CYP21 Gene Using the DCode System

(Date:7/28/2015)... , July 28, 2015  Kerastem Technologies announce ... from the U.S. FDA Center For Biologics Evaluation and ... to conduct a clinical trial investigating the safety and ... female and early male pattern baldness (androgenic alopecia). ... trial, follows initial clinical work in Europe ...
(Date:7/28/2015)... Pa. , July 28, 2015 ... and Drug Administration has accepted for review the company,s ... factor VIII single-chain (rVIII-SingleChain) for the treatment of hemophilia ... primary endpoints. Hemophilia A ... defective factor VIII; nearly all affected patients are male. ...
(Date:7/28/2015)... ZIONA, Israel , July ... (TASE:CLPT; OTC:CQPTY), a regenerative medicine company utilizing its ... today announced that Shomrat Shurtz has been appointed ... 2015.      (Photo: http://photos.prnewswire.com/prnh/20150728/246955 ... 25 years of experience in marketing, regulatory and ...
(Date:7/27/2015)... FRANKLIN, Tenn. , July 27, 2015 ... of health care services and one of the ... announced that its parent company and sole stockholder, ... with Medical Properties Trust, Inc. ("MPT") (NYSE: ... million in cash.  The transaction is expected to be ...
Breaking Biology Technology:Kerastem Receives Conditional Approval from FDA for Alopecia Trial 2U.S. FDA Accepts for Review CSL Behring's Biologics License Application for Its Novel rVIII-SingleChain Therapy for Patients with Hemophilia A 2U.S. FDA Accepts for Review CSL Behring's Biologics License Application for Its Novel rVIII-SingleChain Therapy for Patients with Hemophilia A 3CollPlant Names Shomrat Shurtz Senior Director of Business Development 2Capella Healthcare Announces Agreement With Medical Properties Trust, Inc. 2Capella Healthcare Announces Agreement With Medical Properties Trust, Inc. 3Capella Healthcare Announces Agreement With Medical Properties Trust, Inc. 4Capella Healthcare Announces Agreement With Medical Properties Trust, Inc. 5
... BETHESDA, Md., Aug. 17 Spherix Incorporated (Nasdaq: SPEX ), ... regulatory consulting services to food, supplement, biotechnology and pharmaceutical companies, today reported results ... Recent and Upcoming Company Highlights , , ... Clinical trials on Naturlose (D-tagatose) as a ...
... 17 PharmaTelevision(R), the,authoritative channel for the pharmaceutical, biotechnology ... service PharmaTelevision,News (PTV News), the World,s first daily television ... Dr Fintan Walton, CEO of PharmaVentures - ... we are bringing a dynamic,daily programme, covering the business ...
... , , ... Shire plc (LSE: SHP, Nasdaq: SHPGY ), ... their commitment to the care of adults with Attention-Deficit/Hyperactivity Disorder ... million adults across the country.* The first initiative, "RoADHD ...
Cached Biology Technology:Spherix Reports Second Quarter 2009 Earnings 2Spherix Reports Second Quarter 2009 Earnings 3Spherix Reports Second Quarter 2009 Earnings 4Spherix Reports Second Quarter 2009 Earnings 5Spherix Reports Second Quarter 2009 Earnings 6Spherix Reports Second Quarter 2009 Earnings 7Spherix Reports Second Quarter 2009 Earnings 8PharmaTelevision Launches the First Daily News Show for the Life Sciences Industry 2PharmaTelevision Launches the First Daily News Show for the Life Sciences Industry 3PharmaTelevision Launches the First Daily News Show for the Life Sciences Industry 4Shire Initiates Two Adult ADHD Outreach Programs 2Shire Initiates Two Adult ADHD Outreach Programs 3Shire Initiates Two Adult ADHD Outreach Programs 4
(Date:7/20/2015)... , July 20, 2015  Acuity Market Intelligence,s ... The Convergence of Commerce and Privacy" forecasts that ... biometric apps will be downloaded to smart mobile ... mobile biometrics market is projected to generate more ... during the seven-year forecast period.    ...
(Date:7/9/2015)... 9, 2015  Unchained Labs just can,t get ... of Avid Nano. Avid Nano designs, develops and ... Also today, Unchained Labs UNcaged ... to use protein sizing system. The pUNk is ... hydrodynamic size, size distribution, aggregation population and molecular ...
(Date:7/8/2015)... The consumer products industry for innovative ... products such as wearables, smart wallets & other smart technology ... devices continues to rapidly grow.  Biometrics & Wearable Device Companies ... Google Inc. (NASDAQ: GOOG ), Apple Inc. (NASDAQ: ... (NASDAQ: GPRO ) and Baidu Inc. (NASDAQ: BIDU ...
Breaking Biology News(10 mins):Biometrics on Smart Mobile Devices to Redefine Digital Identity with 12.9 Billion Biometric App Downloads between 2014 and 2020 2Unchained Labs just can't get enough, acquires Avid Nano, rocks out the new pUNk! 2Consumers Flock to This Summer's Must Have Tech Gadgets as Latest Digital Wallets, Smart Technology & Wearable Products Continue to Grow in Popularity & Functionality 2Consumers Flock to This Summer's Must Have Tech Gadgets as Latest Digital Wallets, Smart Technology & Wearable Products Continue to Grow in Popularity & Functionality 3Consumers Flock to This Summer's Must Have Tech Gadgets as Latest Digital Wallets, Smart Technology & Wearable Products Continue to Grow in Popularity & Functionality 4Consumers Flock to This Summer's Must Have Tech Gadgets as Latest Digital Wallets, Smart Technology & Wearable Products Continue to Grow in Popularity & Functionality 5Consumers Flock to This Summer's Must Have Tech Gadgets as Latest Digital Wallets, Smart Technology & Wearable Products Continue to Grow in Popularity & Functionality 6
... and Identity CardsFALLS CHURCH, Va., April 7 CSC ... UK Identity and Passport Service (IPS), an executive agency ... and ID cards, has awarded the company a 10-year ... IPS application and enrollment system. The agreement has an ...
... 2009 -- Which is a better strategy, specializing ... cropping more profitable than organic farming? Is it ... University of Wisconsin,s College of Agriculture and Life ... the Wisconsin Integrated Cropping Systems Trial (WICST) in ...
... 20, 2009) - In a recent study, U.S. researchers ... that are molecularly and functionally indistinguishable from embryonic stem ... source of stem cells and an alternative to harvesting ... Blood , the official journal of the American ...
Cached Biology News:CSC Awarded $570 Million IT Services Contract by UK Identity and Passport Service 2Study finds blood cells can be reprogrammed to act as embryonic stem cells 2
... Freezers for IVF are designed for human ... ease of setup and operation, and convenience. ... are continuously displayed on the control panel. ... are printed by way of the thermal ...
Anti-VDAC (Voltage-Dependent Anion Channel) AVOID FREEZE/THAW CYCLES. Recognizes the porin 31HL protein. Corresponds to mAb 1 in the literature....
... Crotalus adamanteus venom Description: Phosphodiesterase ... used in studying nucleic acid ... It hydrolyzes 5'-mononucleotides from 3'-hydroxy-terminated ... Phosphodiesterase I cleaves ADP-ribosylated proteins ...
A powerful, easy-to-use solution, the SORVALL RC12BP Blood Processing System allows you to manufacture blood components quickly and cost-effectively while ensuring product quality, safety, and GMP co...
Biology Products: