Validation of an Unlabeled Probe Melting Analysis Assay Combined with High-Throughput Extractions for Genotyping of the Most Common Variants inHFE-Associated Hereditary Hemochromatosis, C282Y, H63D, and S65C-Reference-Cited by-同舟云学术

Validation of an Unlabeled Probe Melting Analysis Assay Combined with High-Throughput Extractions for Genotyping of the Most Common Variants inHFE-Associated Hereditary Hemochromatosis, C282Y, H63D, and S65C

Published:2012-07 Issue:7 Volume:16 Page:656-660
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Sumner Kelli¹,Hubley Lindsey¹,Pont-Kingdon Genevieve¹,Mitchell Sheri¹,Wayman Tyler²,Wilson Andrew¹,Meadows Cindy²,Elenitoba-Johnson Kerry²,Pattison David¹,Dobrowolski Steven²,Best Hunter¹³,Lyon Elaine¹³

Affiliation:

1. ARUP Institute for Clinical and Experimental Pathology®, Salt Lake City, Utah.

2. ARUP Laboratories®, Salt Lake City, Utah.

3. Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2011.0204

Reference12 articles.

1. HFE-associated hereditary hemochromatosis

2. Hereditary Hemochromatosis: The Clinical Significance of the S65C Mutation

3. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation

4. Mutation detection using fluorescent hybridization probes and melting curve analysis

5. Discovering Rare Variants by Use of Melting Temperature Shifts Seen in Melting Curve Analysis

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Multiplex Allele-Specific PCR for Simultaneous Detection of H63D and C282Y HFE Mutations in Hereditary Hemochromatosis;The Journal of Applied Laboratory Medicine;2018-07-01

2. Development and evaluation of an unlabeled probe high-resolution melting assay for detection of ATP7B mutations in Wilson's disease;Journal of Clinical Laboratory Analysis;2016-09-17