Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

Mohammed A. Aldahmesh(King Faisal Specialist Hospital & Research Centre), Arif O. Khan(King Faisal Specialist Hospital & Research Centre), Hisham Alkuraya(Imam Mohammad ibn Saud Islamic University), Nouran Adly(King Faisal Specialist Hospital & Research Centre), Shamsa Anazi(King Faisal Specialist Hospital & Research Centre), Ahmed A. Al-Saleh(King Khaled Eye Specialist Hospital), Jawahir Y. Mohamed(King Faisal Specialist Hospital & Research Centre), Hadia Hijazi(King Faisal Specialist Hospital & Research Centre), Sarita Prabakaran(King Faisal Specialist Hospital & Research Centre), Marlene Tacke(University of Freiburg), Abdullah Al-Khrashi(King Saud University), Mais Hashem(King Faisal Specialist Hospital & Research Centre), Thomas Reinheckel(University of Freiburg), Abdullah M. Assiri(King Faisal Specialist Hospital & Research Centre), Fowzan S. Alkuraya(Alfaisal University)
The American Journal of Human Genetics
July 3, 2013
10.1016/j.ajhg.2013.06.002
Cited by 128Open Access
Full Text

Abstract

Related Papers

The revised Ghent nosology for the Marfan syndrome: Table 1
Bart Loeys, Harry C. Dietz, Alan C. Braverman et al.|Journal of Medical Genetics|2010|2.2k
Common Genetic Variation and Human Traits
David B. Goldstein|New England Journal of Medicine|2009|931
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
Sulaiman M. Al‐Mayouf, Asma Sunker, Reem Abdwani et al.|Nature Genetics|2011|475
An Animal Model of Myopia
Elio Raviola, Torsten N. Wiesel|New England Journal of Medicine|1985|387
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
Cathérine Boileau, Dong Guo, Nadine Hanna et al.|Nature Genetics|2012|377