# Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/defects-in-tcirg1-subunit-of-the-vacuolar-proton-pump-are-responsible-for-a/

## Facts

| Field | Value |
| --- | --- |
| Author Names | 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 |
| Citations | 678 |
| DOI | 10.1038/77131 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine,Nursing |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W1599281136 |
| PMID | 10888887 |
| Type | article |
| Year | 2000 |

## Paper authors

- [Mario Abinun](https://scholariq.org/researchers/mario-abinun/)
- [Paul J. Orchard](https://scholariq.org/researchers/paul-j-orchard/)
- [Anna Villa](https://scholariq.org/researchers/anna-villa/)

## Paper primary topic

- [Bone Metabolism and Diseases](https://scholariq.org/topics/bone-metabolism-and-diseases/)

## Paper topics

- [Bone Metabolism and Diseases](https://scholariq.org/topics/bone-metabolism-and-diseases/)
- [Trace Elements in Health](https://scholariq.org/topics/trace-elements-in-health/)
- [Bone health and treatments](https://scholariq.org/topics/bone-health-and-treatments/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.