Výsledky vyhledávání - "Mehran Kauser"

Akademický článek

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

Autor: Muhammad Ajmal, Asif Mir, Sughra Wahid, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi, Mehran Kauser, Salman Akbar Malik, Muhammad Nasir

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)

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 w

Externí odkaz: https://doaj.org/article/76525fde385343eb99a2f450e8ff2350

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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

Autor: Saima Siddiqi, Asif Mir, Muhammad Nasir, Chiea Chuen Khor, Salman Akbar Malik, Muhammad Ajmal, Mehran Kauser, Sughra Wahid, Jia Nee Foo

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
BMC Medical Genetics

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 diffe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d34e80bfab0398dd0eaea572aec226
http://link.springer.com/article/10.1186/s12881-017-0506-4

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