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Ann Katrin Andersson
Researcher at AstraZeneca
Publications - 1
Citations - 644
Ann Katrin Andersson is an academic researcher from AstraZeneca. The author has contributed to research in topics: Osteoclast & CLCN7. The author has an hindex of 1, co-authored 1 publications receiving 597 citations.
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Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
Annalisa Frattini,Paul J. Orchard,Cristina Sobacchi,Silvia Giliani,Mario Abinun,Jan P. Mattsson,David J. Keeling,Ann Katrin Andersson,Pia Wallbrandt,Luigi Zecca,Luigi D. Notarangelo,Paolo Vezzoni,Anna Villa +12 more
TL;DR: It is shown that TCIRG1, encoding the osteoclast-specific 116-kD subunit of the vacuolar proton pump, is mutated in five of nine patients with a diagnosis of infantile malignant osteopetrosis, indicating that mutations in TC IRG1 are a frequent cause of autosomal recessive osteopeterosis in humans.