Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome

Molecular Vision

Volumn 13, Issue , 2007, Pages 1539-1547

  Ebermann, Inga ^a   Wilke, Robert ^b   Lauhoff, Thomas ^c   Lübben, Dirk ^d   Zrenner, Eberhart ^b   Bolz, Hanno Jörn ^a  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c Augenarztpraxis Ennigerloh ^*  (Germany)

^d Poliklin Phoniatrie/Padaudiologie   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENE PRODUCT; UNCLASSIFIED DRUG; USHER SYNDROME TYPE 3A PROTEIN;

ADULT; ARTICLE; AUDIOMETRY; CHROMOSOME 3Q; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILIAL DISEASE; GENE DELETION; GENE INSERTION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GERMANY; HEARING LOSS; HUMAN; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYMPTOM; USHER SYNDROME;

ADULT; AUDIOMETRY; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FUNDUS OCULI; GENOTYPE; GERMANY; HEARING LOSS; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; PHENOTYPE; USHER SYNDROMES; VISION; VISUAL FIELDS;

EID: 34548457640     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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