A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Nature Genetics

Volumn 26, Issue 1, 2000, Pages 51-55

  Verpy, Elisabeth ^a   Leibovici, Michel ^a   Zwaenepoel, Ingrid ^a   Liu, Xue Zhong ^b   Gal, Andreas ^c   Salem, Nabiha ^d   Mansour, Ahmad ^g   Blanchard, Stéphane ^a   Kobayashi, Ichiro ^e   Keats, Bronya J B ^f   Slim, Rima ^g   Petit, Christine ^a  

^a INSTITUT PASTEUR   (France)

^b VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d SAINT JOSEPH UNIVERSITY   (Lebanon)

^e HOKKAIDO UNIVERSITY   (Japan)

^f LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

MEPROBAMATE; MUTANT PROTEIN; MYOSIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; DNA LIBRARY; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; HAIR CELL; HUMAN; IMMUNOFLUORESCENCE; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; USHER SYNDROME; VARIABLE NUMBER OF TANDEM REPEAT; VESTIBULAR DISORDER;

IMPLETA;

EID: 0033816925     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/79171     Document Type: Article

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