A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease
Journal Article
Overview
publication date
- December 1, 1999
has subject area
- Adult
- Biochemical Phenomena - Base Sequence
- Carrier Proteins - ATP-Binding Cassette Transporters
- DNA Mutational Analysis
- Diagnostic Techniques, Cardiovascular - Fluorescein Angiography
- Diagnostic Techniques, Ophthalmological - Fluorescein Angiography
- Environment and Public Health - Cohort Studies
- Eye Diseases - Eye Diseases, Hereditary
- Female
- Fundus Oculi
- Genetic Diseases, Inborn - Eye Diseases, Hereditary
- Genetic Structures - Base Sequence
- Health Care Evaluation Mechanisms - Cohort Studies
- Humans
- Investigative Techniques - Cohort Studies
- Macular Degeneration
- Membrane Proteins - ATP-Binding Cassette Transporters
- Membrane Proteins - ATP-Binding Cassette Transporters
- Middle Aged
- Molecular Sequence Data
- Molecular Sequence Data - Base Sequence
- Ocular Physiological Phenomena - Visual Acuity
- Pedigree
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Proteins - ATP-Binding Cassette Transporters
- Sequence Analysis, DNA
- Vision Tests - Visual Acuity
- Visual Perception - Visual Acuity
Date in CU Experts
- September 9, 2013 10:31 AM
Full Author List
- Zhang K; Garibaldi DC; Kniazeva M; Albini T; Chiang MF; Kerrigan M; Sunness JS; Han M; Allikmets R
author count
- 9
citation count
- 11
published in
Other Profiles
International Standard Serial Number (ISSN)
- 0002-9394
Digital Object Identifier (DOI)
Additional Document Info
start page
- 720
end page
- 724
volume
- 128
issue
- 6