Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

Human Molecular Genetics

Volumn 17, Issue 15, 2008, Pages 2405-2415

  Jacobson, Samuel G ^a,e   Cideciyan, Artur V ^a   Aleman, Tomas S ^a   Sumaroka, Alexander ^a   Roman, Alejandro J ^a   Gardner, Leigh M ^a   Prosser, Haydn M ^b   Mishra, Monalisa ^c   Bech Hansen, N Torben ^d   Herrera, Waldo ^a   Schwartz, Sharon B ^a   Liu, Xue Zhong ^e   Kimberling, William J ^f   Steel, Karen P ^b   Williams, David S ^c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c JULES STEIN EYE INSTITUTE   (United States)

^d UNIVERSITY OF CALGARY   (Canada)

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

^f BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; G PROTEIN COUPLED RECEPTOR; G PROTEIN COUPLED RECEPTOR 98; MYOSIN VIIA; PROTOCADHERIN 15;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG TARGETING; FEMALE; GENE MUTATION; GENE REPLACEMENT THERAPY; HEARING IMPAIRMENT; HUMAN; HYPOTHESIS; IN VIVO STUDY; MALE; PATHOPHYSIOLOGY; PHENOTYPE; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA DEVELOPMENT; RETINA DISEASE; SOMATIC GENE THERAPY; SYNAPSE; USHER SYNDROME; VISION;

ADOLESCENT; ADULT; ANIMALS; CADHERINS; CHILD; DYNEIN ATPASE; EXTRACELLULAR MATRIX PROTEINS; EYE PROTEINS; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MICE; MIDDLE AGED; MUTATION; MYOSINS; NERVE TISSUE PROTEINS; PHOTORECEPTORS, VERTEBRATE; PIGMENT EPITHELIUM OF EYE; RECEPTORS, G-PROTEIN-COUPLED; USHER SYNDROMES;

MURINAE; MUS;

EID: 48049108714     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn140     Document Type: Article

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