A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
- DOI
- 10.1016/j.ajhg.2012.09.002
- Published
- 2012 Nov 2
- Container
- American journal of human genetics
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1016/j.ajhg.2012.09.002,
title = {A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.},
author = {von Ameln S and Wang G and Boulouiz R and Rutherford MA and Smith GM and Li Y and Pogoda HM and Nürnberg G and Stiller B and Volk AE and Borck G and Hong JS and Goodyear RJ and Abidi O and Nürnberg P and Hofmann K and Richardson GP and Hammerschmidt M and Moser T and Wollnik B and Koehler CM and Teitell MA and Barakat A and Kubisch C},
year = {2012},
journal = {American journal of human genetics},
doi = {10.1016/j.ajhg.2012.09.002},
url = {https://doi.org/10.1016/j.ajhg.2012.09.002}
}RIS
TY - JOUR TI - A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. AU - von Ameln S AU - Wang G AU - Boulouiz R AU - Rutherford MA AU - Smith GM AU - Li Y AU - Pogoda HM AU - Nürnberg G AU - Stiller B AU - Volk AE AU - Borck G AU - Hong JS AU - Goodyear RJ AU - Abidi O AU - Nürnberg P AU - Hofmann K AU - Richardson GP AU - Hammerschmidt M AU - Moser T AU - Wollnik B AU - Koehler CM AU - Teitell MA AU - Barakat A AU - Kubisch C PY - 2012 JO - American journal of human genetics DO - 10.1016/j.ajhg.2012.09.002 UR - https://doi.org/10.1016/j.ajhg.2012.09.002 ER -
APA
S, V. A., G, W., R, B., MA, R., GM, S., Y, L., HM, P., G, N., B, S., AE, V., G, B., JS, H., RJ, G., O, A., P, N., K, H., GP, R., M, H., T, M., B, W., CM, K., MA, T., A, B., & C, K. (2012). A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2012.09.002
Source records
- pubmed · retrieved 2026-09-25T01:26:28.706Z