Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss

Human Mutation

Volumn 33, Issue 4, 2012, Pages 681-689

  Gutiérrez Cortés, Nicolás ^a   Pertuiset, Claire ^a   Dumon, Elodie ^a   Börlin, Marine ^a   Hebert Chatelain, Etienne ^a   Pierron, Denis ^a   Feldmann, Delphine ^b   Jonard, Laurence ^b,c,d   Marlin, Sandrine ^b,c,d   Letellier, Thierry ^a   Rocher, Christophe ^a  

^a INSERM   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d Institut Pasteur   (France)

Author keywords

Deafness; MtDNA; Nonsyndromic hearing loss; OXPHOS

Indexed keywords

AMINOGLYCOSIDE; CYTOCHROME B; ISOLEUCINE TRANSFER RNA; MITOCHONDRIAL DNA; SERINE TRANSFER RNA;

ARTICLE; CONTROLLED STUDY; GENETIC CODE; HEARING LOSS; HUMAN; HUMAN CELL; MATERNALLY INHERITED NONSYNDROMIC HEARING LOSS; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN MOTIF; PROTEIN PHOSPHORYLATION; RESPIRATORY CHAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

AMINOGLYCOSIDES; CELL LINE; CELL RESPIRATION; CYTOCHROMES B; DNA, MITOCHONDRIAL; FEMALE; HEARING LOSS; HUMANS; MALE; MITOCHONDRIA; MOTHERS; MUTATION; NADH DEHYDROGENASE; PEDIGREE; PHOSPHORYLATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN CONFORMATION; RNA, TRANSFER, ILE; RNA, TRANSFER, SER;

EID: 84858299121     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22023     Document Type: Article

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