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: | , , , , , , , , , , , |
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Formato: | article |
Lenguaje: | EN |
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BMC
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/2bf5b2c415524ca4aafc8083fa1e385f |
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