Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

Edwin M STONE; Artur V CIDECIYAN; Anne B FULTON; Robert F MULLINS; Val C SHEFFIELD; Samuel G JACOBSON; Tomas S ALEMAN; Todd E SCHEETZ; Alexander SUMAROKA; Mary A EHLINGER; Sharon B SCHWARTZ; Gerald A FISHMAN; Elias I TRABOULSI; Byron L LAM

doi:10.1001/archophthalmol.2010.330

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Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

Journal article

Open access

Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

Edwin M STONE, Artur V CIDECIYAN, Anne B FULTON, Robert F MULLINS, Val C SHEFFIELD, Samuel G JACOBSON, Tomas S ALEMAN, Todd E SCHEETZ, Alexander SUMAROKA, Mary A EHLINGER, …

Archives of ophthalmology (1960), Vol.129(1), pp.81-87

2011

DOI: https://doi.org/10.1001/archophthalmol.2010.330

PMCID: PMC3952880

PMID: 21220633

Abstract

Miscellaneous

Retinopathies

Nephropathies. Renovascular diseases. Renal failure

Nephrology. Urinary tract diseases

Biological and medical sciences

Medical sciences

Ophthalmology

Tubulopathies

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.36 Ophthalmology; 1.36.212 Retina
Web Of Science research areas: Ophthalmology
ESI research areas: Clinical Medicine

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Title: Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome
Creators: Edwin M STONE - Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, United States
Artur V CIDECIYAN - Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, United States
Anne B FULTON - Boston Children's Hospital, Boston, Massachusetts, United States
Robert F MULLINS - Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, United States
Val C SHEFFIELD - Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, United States
Samuel G JACOBSON - Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, United States
Tomas S ALEMAN - Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, United States
Todd E SCHEETZ - Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, United States
Alexander SUMAROKA - Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, United States
Mary A EHLINGER - Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, United States
Sharon B SCHWARTZ - Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, United States
Gerald A FISHMAN - Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, United States
Elias I TRABOULSI - Department of Pediatric Ophthalmology and Strabismus, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, United States
Byron L LAM - Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, United States
Publication Details: Archives of ophthalmology (1960), Vol.129(1), pp.81-87
Publisher: American Medical Association; Chicago, IL
Academic Unit: Miller School of Medicine; UMMG Department of Ophthalmology
Language: English
Resource Type: Journal article
PMID: 21220633
PMCID: PMC3952880
Record Identifier: 991031560566802976