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https://pubmed.ncbi.nlm.nih.gov/34753502/
Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence...
Osteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are reported for...
genetic analysisosteopetrosispakistanifamiliesidentifies
https://www.ncbi.nlm.nih.gov/books/NBK617444/
TCIRG1-Related Osteopetrosis - GeneReviews® - NCBI Bookshelf
TCIRG1-related osteopetrosis is characterized by growth deficiency, pathologic fractures of dense but brittle bones, limping gait with bone pain, hypocalcemia...
ncbi bookshelfrelatedosteopetrosis
https://pmc.ncbi.nlm.nih.gov/articles/PMC3411020/
Osteopetrosis Mutation R444L Causes Endoplasmic Reticulum Retention and Misprocessing of Vacuolar...
Background: The human V-ATPase a3 subunit mutation, R444L, causes infantile malignant osteopetrosis. Results: In mouse, the R444L equivalent, R445L, causes...
endoplasmic reticulumosteopetrosismutationcausesretention