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...

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Detalles Bibliográficos
Autores principales: Ajmal, Muhammad, Mir, Asif, Wahid, Sughra, Khor, Chiea Chuen, Foo, Jia Nee, Siddiqi, Saima, Kauser, Mehran, Malik, Salman Akbar, Nasir, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729456/
https://www.ncbi.nlm.nih.gov/pubmed/29237407
http://dx.doi.org/10.1186/s12881-017-0506-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729456/
https://www.ncbi.nlm.nih.gov/pubmed/29237407
http://dx.doi.org/10.1186/s12881-017-0506-4

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