Osteopetrosis Mutation R444L causes Endoplasmic Reticulum Retention and Misprocessing of Vacuolar H+-ATPase a3 Subunit
Osteopetrosis is characterized by increased bone density and fragility. The R444L missense mutation in the human V-ATPase a3 subunit causes this disease. Modeling the R444L mutation in mouse a3 caused endoplasmic reticulum (ER) retention of a3 with attendant abrogation of maturation and trafficking...
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| Language: | en_ca |
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2012
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| Online Access: | http://hdl.handle.net/1807/32458 |