Population Mutation Scanning of Human GHR by meltMADGE and Identification of a Paucimorphic Variant-Reference-Cited by-同舟云学术

Population Mutation Scanning of Human GHR by meltMADGE and Identification of a Paucimorphic Variant

Published:2011-12 Issue:12 Volume:15 Page:855-860
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Alharbi Khalid K.¹,Hou Guangwei²,Chen Xiao-he³,Gaunt Tom R.⁴,Syddall Holly E.⁵,Sayer Avan Aihie⁵,Dennison Elaine M.⁵,Phillips David I.W.⁵,Cooper Cyrus⁵,Day Ian N.M.⁴

Affiliation:

1. Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.

2. Forensic Science Institute of Liaoning, Shenyang, People's Republic of China.

3. Lymphoid Malignancy Research Group, NDCLS Academic Block Level 4 John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.

4. Bristol Genetic Epidemiology Laboratories and MRC Centre for Causal Analyses in Translational Epidemiology, Department of Social Medicine, University of Bristol, Bristol, United Kingdom.

5. MRC Epidemiology Resource Centre, University of Southampton, Southampton, United Kingdom.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2011.0070

Reference27 articles.

1. Prevalence and functionality of paucimorphic and privateMC4Rmutations in a large, unselected European British population, scanned by meltMADGE

2. Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

3. Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome

4. A dominant-negative mutation of the growth hormone receptor causes familial short stature

5. Chromosome mapping of the growth hormone receptor gene in man and mouse