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

• Autori principali: Muhammad Ajmal (Autore), Asif Mir (Autore), Sughra Wahid (Autore), Chiea Chuen Khor (Autore), Jia Nee Foo (Autore), Saima Siddiqi (Autore), Mehran Kauser (Autore), Salman Akbar Malik (Autore), Muhammad Nasir (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2017-12-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract 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, mal...