Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human leber congenital amaurosis en route to therapy: Residual cone-photoreceptor vision correlates with biochemical properties of the mutants

Human Molecular Genetics

Volumn 22, Issue 1, 2013, Pages 168-183

  Jacobson, Samuel G ^a   Cideciyan, Artur V ^a   Peshenko, Igor V ^b   Sumaroka, Alexander ^a   Olshevskaya, Elena V ^b   Cao, Lihui ^c   Schwartz, Sharon B ^a   Roman, Alejandro J ^a   Olivares, Melani B ^a   Sadigh, Sam ^a   Yau, King Wai ^c   Heon, Elise ^d   Stone, Edwin M ^e   Dizhoor, Alexander M ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b SALUS UNIVERSITY   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANYLATE CYCLASE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CATALYSIS; CELL FUNCTION; CELL STRUCTURE; CHILD; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPIRETINAL MEMBRANE; FEMALE; GENE MUTATION; GENE THERAPY; HUMAN; ILLUMINATION; IN VITRO STUDY; IN VIVO STUDY; INFANT; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA CONE; RETINA FOVEA; SCHOOL CHILD; VISION;

ADOLESCENT; ADULT; CATALYTIC DOMAIN; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GUANYLATE CYCLASE; HUMANS; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION, MISSENSE; PHOTORECEPTOR CELLS, VERTEBRATE; RECEPTORS, CELL SURFACE; RETINAL CONE PHOTORECEPTOR CELLS; YOUNG ADULT;

EID: 84871214661     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds421     Document Type: Article

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