Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

Biochemical and Biophysical Research Communications

Volumn 394, Issue 3, 2010, Pages 737-742

  Marlin, Sandrine ^a,b   Feldmann, Delphine ^a,b   Nguyen, Yann ^a   Rouillon, Isabelle ^a   Loundon, Natalie ^a   Jonard, Laurence ^a,b   Bonnet, Crystel ^b   Couderc, Remy ^a,b   Garabedian, Eréa Noel ^a,b   Petit, Christine ^b,c   Denoyelle, Françoise ^a,b  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b Institut Pasteur   (France)

^c INSTITUT PASTEUR   (France)

Author keywords

Auditory neuropathy; Deafness; Hearing impairment; Otoferlin; Temperature sensitive mutation

Indexed keywords

CELL PROTEIN; OTOFERLIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHILD; CORE TEMPERATURE; FAMILY STUDY; FEMALE; FEVER; GENE; GENE MAPPING; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; MALE; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; OTOF GENE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SCHOOL CHILD; TEMPERATURE SENSITIVE MUTANT; VESTIBULOCOCHLEAR NERVE DISEASE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; EXONS; FEMALE; FEVER; HEARING LOSS, SENSORINEURAL; HOT TEMPERATURE; HUMANS; MALE; MEMBRANE PROTEINS; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEINS; SEQUENCE DELETION;

MAMMALIA;

EID: 77950519874     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2010.03.062     Document Type: Article

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