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

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 treatment par...

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Detalles Bibliográficos
Autores principales:	Liu, Chunyu, Ajmal, Muhammad, Akram, Zaineb, Ghafoor, Tariq, Farhan, Muhammad, Shafique, Sobia, Wahid, Sughra, Bano, Shahar, Xiao, Jianqiu, Satti, Humayoon Shafique, Zhang, Feng, Khan, Tahir Naeem
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8576874/ https://www.ncbi.nlm.nih.gov/pubmed/34753502 http://dx.doi.org/10.1186/s12920-021-01117-4

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