+ Site Statistics
References:
52,654,530
Abstracts:
29,560,856
PMIDs:
28,072,755
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Multicenter validation of a new reverse hybridization assay for CFTR mutation analysis



Multicenter validation of a new reverse hybridization assay for CFTR mutation analysis



American Journal of Human Genetics 71(4 Supplement): 386




(PDF emailed within 1 workday: $29.90)

Accession: 035349966

Download citation: RISBibTeXText


Related references

Evaluation PCR-reverse line hybridization assay for detection and identification of Mycobacterium species: a multicenter study. Sichuan Da Xue Xue Bao. Yi Xue Ban 40(6): 1130-1134, 2011

Validation of a low-cost human papillomavirus genotyping assay based on PGMY PCR and reverse blotting hybridization with reusable membranes. Journal of Clinical Microbiology 49(10): 3474-3481, 2012

Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Journal of Molecular Diagnostics 10(5): 424-434, 2008

The Haemochromatosis StripAssay A reverse-hybridization assay for the molecular analysis of HFE gene mutations. European Journal of Human Genetics 8(Supplement 1): 117-118, 2000

Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions. Clinical Chemistry and Laboratory Medicine 45(5): 605-610, 2007

Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays. Clinical Chemistry 50(1): 251-254, 2004

The Haemochromatosis StripAssay; a reverse-hybridization assay for the molecular analysis of HFE and TFR2 gene mutations. European Journal of Human Genetics 9(Supplement 1): P1226, 2001

Development and validation of a tetra-primer amplification refractory mutation system-polymerase chain reaction combined with melting analysis-assay for clinical JAK2 V617F mutation detection. Molecular Diagnosis and Therapy 18(5): 579-585, 2015

Optimizing nasal potential difference analysis for CFTR modulator development: assessment of ivacaftor in CF subjects with the G551D-CFTR mutation. Plos One 8(7): E66955, 2014

A melting curve analysis--based PCR assay for one-step genotyping of β-thalassemia mutations a multicenter validation. Journal of Molecular Diagnostics 13(4): 427-435, 2011

Identification of 20 common human enterovirus serotypes by use of a reverse transcription-PCR-based reverse line blot hybridization assay. Journal of Clinical Microbiology 47(9): 2737-2743, 2009

Cross-platform analysis of HIV-1 RNA data generated by a multicenter assay validation study with wide geographic representation. Journal of Clinical Microbiology 50(8): 2737-2747, 2012

Comparison of a novel real-time PCR assay with sequence analysis, reverse hybridization, and multiplex PCR for hepatitis B virus type B and C genotyping. Journal of Clinical Microbiology 49(9): 3392-3394, 2011

A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. Lancet. Respiratory Medicine 2(7): 527-538, 2015

Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran. Iranian Journal of Pediatrics 21(1): 51-57, 2011