A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

Nature Genetics

Volumn 21, Issue 4, 1999, Pages 363-369

  Yasunaga, Shin'ichiro ^a   Grati, M'hamed ^a   Cohen Salmon, Martine ^a   El Amraoui, Aziz ^a   Mustapha, Mirna ^a,b   Salem, Nabiha ^b   El Zir, Elie ^c   Loiselet, Jacques ^b   Petit, Christine ^a  

^a INSTITUT PASTEUR   (France)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c Sacre Coeur Hospital Baabda   (Lebanon)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAENORHABDITIS ELEGANS; CARBOXY TERMINAL SEQUENCE; COCHLEA DUCT; GENE MUTATION; HEARING IMPAIRMENT; MULTIGENE FAMILY; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; SYNAPSE VESICLE; YEAST ARTIFICIAL CHROMOSOME;

AMINO ACID SEQUENCE; ANIMALS; CAENORHABDITIS ELEGANS PROTEINS; CHROMOSOME MAPPING; CLONING, MOLECULAR; DEAFNESS; EAR, INNER; FEMALE; GENE EXPRESSION; GENETIC MARKERS; HELMINTH PROTEINS; HUMANS; LINKAGE (GENETICS); MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0032947634     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/7693     Document Type: Article

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