Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants

Abstract Osteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are reported for osteopetrosis with all forms of inheritance patterns. A precise molecular diagnosis is necessary for prognosis and for prescribing trea...

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Autores principales: Chunyu Liu, Muhammad Ajmal, Zaineb Akram, Tariq Ghafoor, Muhammad Farhan, Sobia Shafique, Sughra Wahid, Shahar Bano, Jianqiu Xiao, Humayoon Shafique Satti, Feng Zhang, Tahir Naeem Khan
Formato: article
Lenguaje:EN
Publicado: BMC 2021
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Acceso en línea:https://doaj.org/article/2bf5b2c415524ca4aafc8083fa1e385f
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