Novel mutation in GLRB in a large family with hereditary hyperekplexia

Journal article

Peer reviewed

M Al-Owain, D Colak, A Al-Bakheet, N Al-Hashmi, T Shuaib, A Al-Hemidan, H Aldhalaan, Z Rahbeeni, M Al-Sayed, B Al-Younes, …

Clinical genetics, Vol.81(5), pp.479-484

Received 28 November 2010, revised and accepted for publication 4 March 2011

05/2012

PMID: 21391991

Abstract

behavioral problems

esotropia

GLRB

hyperekplexia

linkage and homozygosity mapping

1 Record Views

Title: Novel mutation in GLRB in a large family with hereditary hyperekplexia
Creators - without role: M Al-Owain - King Faisal Specialist Hospital & Research Centre
D Colak - Department of Biostatistics, Epidemiology and Scientific Computing
A Al-Bakheet - Department of Genetics
N Al-Hashmi - King Faisal Specialist Hospital & Research Centre
T Shuaib - Department of Ophthalmology
A Al-Hemidan - Department of Ophthalmology
H Aldhalaan - King Faisal Specialist Hospital & Research Centre
Z Rahbeeni - King Faisal Specialist Hospital & Research Centre
M Al-Sayed - King Faisal Specialist Hospital & Research Centre
B Al-Younes - Department of Genetics
P T Ozand - Yıldız Technical University
N Kaya - Department of Genetics
Publication Details: Clinical genetics, Vol.81(5), pp.479-484
Publisher: Blackwell Publishing Ltd
Edition: Received 28 November 2010, revised and accepted for publication 4 March 2011
Number of pages: 6
Identifiers: 9913983308331
Academic Unit: King Faisal University; Alfaisal University
Language: English
Resource Type: Journal article