Rapid Detection of G1138A and G1138C Mutations of the FGFR3 Gene in Patients with Achondroplasia Using High-Resolution Melting Analysis-Reference-Cited by-同舟云学术

Rapid Detection of G1138A and G1138C Mutations of the FGFR3 Gene in Patients with Achondroplasia Using High-Resolution Melting Analysis

Published:2012-04 Issue:4 Volume:16 Page:297-301
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

He Xiang¹²,Xie Feng³,Ren Zhao-rui¹²

Affiliation:

1. Shanghai Institute of Medical Genetics, Children's Hospital of Shanghai, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.

2. Key Lab of Embryo Molecular Biology, Ministry of Health, China, and Shanghai Lab of Embryo and Reproduction Engineering, Shanghai, People's Republic of China.

3. Department of Orthopedics, Children's Hospital of Shanghai, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2011.0113

Reference30 articles.

1. Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis

2. First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia

3. Radiographic Characteristics of Lower-Extremity Bowing in Children

4. Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system

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