Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

Investigative Ophthalmology and Visual Science

Volumn 46, Issue 2, 2005, Pages 734-743

  Schwartz, Sharon B ^a   Aleman, Tomas S ^a   Cideciyan, Artur V ^a   Windsor, Elizabeth A M ^a   Sumaroka, Alexander ^a   Roman, Alejandro J ^a   Rane, Tej ^a   Smilko, Elaine E ^a   Bennett, Jean ^a   Stone, Edwin M ^b   Kimberling, William J ^c   Liu, Xue Zhong ^d   Jacobson, Samuel G ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^c BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; ELECTRORETINOGRAPHY; FEMALE; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; HEARING LOSS; HUMAN; MALE; MULTIGENE FAMILY; PERIMETRY; PHENOTYPE; PHOTORECEPTOR CELL; PRIORITY JOURNAL; USH2A GENE; USHER SYNDROME; VESTIBULAR FUNCTION; VLGR1 GENE;

ADOLESCENT; ADULT; ELECTRORETINOGRAPHY; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HEARING LOSS; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PERIMETRY; PHENOTYPE; PHOTORECEPTORS, VERTEBRATE; RECEPTORS, G-PROTEIN-COUPLED; RETINAL DEGENERATION; SIBLINGS; SYNDROME; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL FIELDS;

EID: 13944283732     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.04-1136     Document Type: Article

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