Rapid Molecular Diagnosis of Genetic Diseases by High Resolution Melting Analysis: Fabry and Glycogen Storage 1A Diseases-Reference-Cited by-同舟云学术

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Rapid Molecular Diagnosis of Genetic Diseases by High Resolution Melting Analysis: Fabry and Glycogen Storage 1A Diseases

Published:2014-01 Issue:1 Volume:18 Page:3-7
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Ezgu Fatih¹,Divanoglu Yoruk²,Polat Murat¹,Bahceci Sitkiye²,Hasanoglu Alev¹,Desnick Robert J.³

Affiliation:

1. Department of Pediatric Metabolic Disorders and Pediatric Genetics, Gazi University Faculty of Medicine, Ankara, Turkey.

2. Synbio Biotechnology, Ankara, Turkey.

3. Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2013.0371

Reference22 articles.

1. Comparison of High-Resolution Melting Analysis with Denaturing High-Performance Liquid Chromatography for Mutation Scanning in theABCA4Gene

2. Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability

3. Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1

4. Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease

Cited by 5 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. MOLECULAR DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE I: A REVIEW;EXCLI J;2019

2. Simple and efficient screening of patients with Fabry disease with high resolution melting;Clinical Biochemistry;2018-03

3. Mutation Detection by Analysis of DNA Heteroduplexes in TILLING Populations of Diploid Species;Biotechnologies for Plant Mutation Breeding;2016-12-09

4. Inborn Errors of Metabolism;Advances in Clinical Chemistry;2016

5. Recent advances in the molecular diagnosis of inborn errors of metabolism;Clinical Biochemistry;2014-06

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