Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

Nature Genetics

Volumn 28, Issue 2, 2001, Pages 123-124

  Thompson, Debra A ^a   Li, Yun ^b   McHenry, Christina L ^a   Carlson, Thomas J ^a,c   Ding, Xiaoling ^a   Sieving, Paul A ^a   Apfelstedt Sylla, Eckart ^d   Gal, Andreas ^b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c DUPONT COMPANY   (United States)

^d UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

11 CIS RETINAL; LECITHIN RETINOL ACYLTRANSFERASE; RETINOL; VISUAL PIGMENT;

ADULT; ANIMAL CELL; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CELL STRAIN COS1; CHROMATOPHORE; ELECTRORETINOGRAM; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DYSTROPHY; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; VISUAL FIELD DEFECT; VITAMIN METABOLISM;

ACYLTRANSFERASES; AGE OF ONSET; ANIMALS; CELL MEMBRANE; COS CELLS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINAL DEGENERATION;

ANIMALIA; BACTERIA (MICROORGANISMS);

EID: 0034973574     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/88828     Document Type: Article

References (15)