A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

American Journal of Human Genetics

Volumn 91, Issue 5, 2012, Pages 919-927

  Von Ameln, Simon ^a,b   Wang, Geng ^c   Boulouiz, Redouane ^d   Rutherford, Mark A ^e   Smith, Geoffrey M ^f   Li, Yun ^b   Pogoda, Hans Martin ^b   Nürnberg, Gudrun ^g   Stiller, Barbara ^a,b   Volk, Alexander E ^a,b   Borck, Guntram ^a,b   Hong, Jason S ^f   Goodyear, Richard J ^h   Abidi, Omar ^d   Nürnberg, Peter ^b,g   Hofmann, Kay ^b   Richardson, Guy P ^h   Hammerschmidt, Matthias ^b   Moser, Tobias ^e,i   Wollnik, Bernd ^b   Koehler, Carla M ^c   Teitell, Michael A ^c,f   Barakat, Abdelhamid ^d   Kubisch, Christian ^a,b   more..

^a UNIVERSITY OF ULM   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Institut Pasteur du Maroc   (Morocco)

^e UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF COLOGNE   (Germany)

^h UNIVERSITY OF SUSSEX   (United Kingdom)

ⁱ UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; POLYRIBONUCLEOTIDE NUCLEOTIDYLTRANSFERASE; RNA 5S;

ADOLESCENT; ALPHA HELIX; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 2; COCHLEA; GENETIC SUSCEPTIBILITY; HEARING IMPAIRMENT; HEREDITARY DEAFNESS; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELL LINE; CHROMOSOME MAPPING; COCHLEA; CONSANGUINITY; EXONS; EXORIBONUCLEASES; FEMALE; GENE EXPRESSION; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN CONFORMATION; RNA; RNA TRANSPORT; ZEBRAFISH;

MAMMALIA; MURINAE;

EID: 84868504132     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.09.002     Document Type: Article

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