Yazar "Kasow, Kimberly A." için listeleme

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SNX10 Mutations Define a Subgroup of Human Autosomal Recessive Osteopetrosis With Variable Clinical Severity

Pangrazio, Alessandra; Fasth, Anders; Sbardellati, Andrea; Orchard, Paul J.; Kasow, Kimberly A.; Raza, Jamal; Sobacchi, Cristina (Wiley-Blackwell, 2013)

Human Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. In 2000, we found that mutations in the TCIRG1 gene encoding for a subunit of the ...