Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

Human Molecular Genetics

Volumn 12, Issue 5, 2003, Pages 463-471

  Weil, Dominique ^a   El Amraoui, Aziz ^a   Masmoudi, Saber ^b   Mustapha, Mirna ^a   Kikkawa, Yoshiaki ^c   Lainé, Sophie ^a   Delmaghani, Sedigheh ^a   Adato, Avital ^a,d   Nadifi, Sellama ^e   Zina, Zeineb Ben ^f   Hamel, Christian ^g   Gal, Andreas ^h   Ayadi, Hammadi ^b   Yonekawa, Hiromichi ^c   Petit, Christine ^a  

^a INSTITUT PASTEUR   (France)

^b UNIVERSITY OF SFAX   (Tunisia)

^c TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^d WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^e HASSAN II UNIVERSITY   (Morocco)

^f HABIB BOURGUIBA HOSPITAL   (Tunisia)

^g INSERM   (France)

^h UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; CADHERIN; CELL PROTEIN; MYOSIN; PROTEIN HARMONIN; PROTEIN SANS; TRIPEPTIDE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLINDNESS; CARBOXY TERMINAL SEQUENCE; CELL STRUCTURE; CHILD; CHROMOSOME 17Q; CHROMOSOME STRUCTURE; CONSANGUINITY; CONTROLLED STUDY; ETHNOLOGY; FRAMESHIFT MUTATION; GENE FUNCTION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC CODE; GENETIC DISORDER; GENETIC SCREENING; GENETIC TRANSFECTION; GERMANY; HAIR CELL; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; HUMAN CELL; INNER EAR; MALE; MECHANORECEPTOR; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN MOTIF; PROTEIN PROTEIN INTERACTION; SENSORY NERVE CELL; SYNTENY; USHER SYNDROME;

EID: 0037341463     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg051     Document Type: Article

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