Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis and Senior-Loken syndrome

Archives of Ophthalmology

Volumn 129, Issue 1, 2011, Pages 81-87

  Stone, Edwin M ^a   Cideciyan, Artur V ^b   Aleman, Tomas S ^b   Scheetz, Todd E ^a   Sumaroka, Alexander ^b   Ehlinger, Mary A ^a   Schwartz, Sharon B ^b   Fishman, Gerald A ^c   Traboulsi, Elias I ^d   Lam, Byron L ^e   Fulton, Anne B ^f   Mullins, Robert F ^a   Sheffield, Val C ^a   Jacobson, Samuel G ^b  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^d LERNER RESEARCH INSTITUTE   (United States)

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

^f BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; MUTATOR GENE; NEPHRONOPHTHISIS; NPHP5 GENE; PHENOTYPE; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA IMAGE; SCHOOL CHILD; VISUAL IMPAIRMENT;

ADOLESCENT; CALMODULIN-BINDING PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; KIDNEY DISEASES, CYSTIC; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION; OPHTHALMOSCOPY; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; RETINA; TOMOGRAPHY, OPTICAL COHERENCE; VISION DISORDERS; YOUNG ADULT;

EID: 78651271750     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2010.330     Document Type: Article

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