TY  - GEN
AU  - Maugeri,A
AU  - van Driel,M A
AU  - van de Pol,D J
AU  - Klevering,B J
AU  - van Haren,F J
AU  - Tijmes,N
AU  - Bergen,A A
AU  - Rohrschneider,K
AU  - Blankenagel,A
AU  - Pinckers,A J
AU  - Dahl,N
AU  - Brunner,H G
AU  - Deutman,A F
AU  - Hoyng,C B
AU  - Cremers,F P
TI  - The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
SN  - 0002-9297
PY  - 2000///0405
KW  - ATP-Binding Cassette Transporters
KW  - chemistry
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Cells, Cultured
KW  - Corneal Dystrophies, Hereditary
KW  - epidemiology
KW  - DNA Mutational Analysis
KW  - Europe
KW  - Exons
KW  - genetics
KW  - Founder Effect
KW  - Gene Frequency
KW  - Genetic Predisposition to Disease
KW  - Genotype
KW  - Humans
KW  - Incidence
KW  - Linkage Disequilibrium
KW  - Phenotype
KW  - Point Mutation
KW  - Polymorphism, Genetic
KW  - RNA, Messenger
KW  - analysis
KW  - Retinitis Pigmentosa
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1086/302323
ER  -