Whole exome sequencing analysis identifies a missense variant in COL1A2 gene which causes osteogenesis imperfecta Type IV in a family from Saudi Arabia
Yaser M Alkhiary1, Anum Ramzan2, Muhammad Ilyas2, Ubaidullah Khan2, Abdul Nasir3, Muhammad I Khan4, Habib Ahmad5, Musharraf Jelani6
1 Department of Oral and Maxillofacial Prosthodontics, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia 2 Centre for Human Genetics, Hazara University, Mansehra, Pakistan 3 Department of Molecular Science and Technology, Ajou University, Suwon, South Korea 4 Department of Zoology, Islamia College University, Peshawar, Pakistan 5 Centre for Human Genetics, Hazara University, Mansehra; Department of Zoology, Islamia College University, Peshawar, Pakistan 6 Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia
Correspondence Address:
Musharraf Jelani Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah 21589 Saudi Arabia
 Source of Support: None, Conflict of Interest: None  | 1 |
DOI: 10.4103/jmsr.jmsr_26_17
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