A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

Erstveröffentlichung
2012
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Wissenschaftlicher Artikel


Authors
von Ameln, Simon
Wang, Geng
Boulouiz, Redouane
Rutherford, Mark A.
Smith, Geoffrey M.
et al.
Institutions
UKU. Institut für Humangenetik
Published in
American Journal of Human Genetics ; 91 (2012), 5. - S. 919-927. - ISSN 0002-9297
Link to publication
https://dx.doi.org/10.1016/j.ajhg.2012.09.002
Funding information
Alexander von Humboldt-Stiftung
Keywords
HUMAN POLYNUCLEOTIDE PHOSPHORYLASE; ESCHERICHIA-COLI; DEGRADATION; DISEASE; GENES; DNA
Dewey Decimal Group
DDC 570 / Life sciences
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