Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

Background: Osteopetrosis is a rare inherited bone disorder mainly described as an increased bone density caused by defective osteoclastic bone resorption. To date, genetic variants of eleven genes have been reported so far to be associated with different types of osteopetrosis. However, malignant i...

Full description

Saved in:
Bibliographic Details
Main Authors: Ajmal, Muhammad, Mir, Asif, Wahid, Sughra, Khor, Chiea Chuen, Foo, Jia Nee, Siddiqi, Saima, Kauser, Mehran, Malik, Salman Akbar, Nasir, Muhammad
Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
Format: Article
Language:English
Published: 2018
Subjects:
Online Access:https://hdl.handle.net/10356/87516
http://hdl.handle.net/10220/44447
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Nanyang Technological University
Language: English
Be the first to leave a comment!
You must be logged in first