Mutation screening of patients with Leber congenital amaurosis or the enhanced S-cone syndrome reveals a lack of sequence variations in the NRL gene

Molecular Vision

Volumn 9, Issue , 2003, Pages 14-17

  Acar, Ceren ^a,b   Mears, Alan J ^a   Yashar, Beverly M ^a,c   Maheshwary, Anjali S ^a   Andreasson, Sten ^d   Baldi, Alfonso ^e   Sieving, Paul A ^f   Iannaccone, Alessandro ^g   Musarella, Maria A ^h   Jacobson, Samuel G ⁱ   Swaroop, Anand ^a,c  

^a UNIVERSITY OF MICHIGAN   (United States)

^b HACETTEPE UNIVERSITY   (Turkey)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d LUND UNIVERSITY   (Sweden)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f NATIONAL EYE INSTITUTE   (United States)

^g UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^h SUNY DOWNSTATE MEDICAL CENTER   (United States)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYTOSINE; GENOMIC DNA; GUANINE; LEUCINE ZIPPER PROTEIN; NUCLEOTIDE; OPSIN; BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR; DNA BINDING PROTEIN; EYE PROTEIN; NRL PROTEIN, HUMAN; PRIMER DNA; TRANSCRIPTION FACTOR;

ARTICLE; BLOOD SAMPLING; COHORT ANALYSIS; CONTROLLED STUDY; DNA ISOLATION; EXON; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRON; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PHOTORECEPTOR; PINEAL BODY; POLYMERASE CHAIN REACTION; PROMOTER REGION; RETINA DEGENERATION; RETINA DISEASE; RETINA ROD; RETINITIS PIGMENTOSA; RETINOPATHY; BLINDNESS; CHEMISTRY; DNA SEQUENCE; GENETIC VARIABILITY; GENETICS; LEBER HEREDITARY OPTIC NEUROPATHY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; RETINA CONE; SYNDROME;

BASIC-LEUCINE ZIPPER TRANSCRIPTION FACTORS; BLINDNESS; CONES (RETINA); DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; EYE PROTEINS; HUMANS; LEUCINE ZIPPERS; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; POLYMERASE CHAIN REACTION; RETINAL DISEASES; SEQUENCE ANALYSIS, DNA; SYNDROME; TRANSCRIPTION FACTORS; VARIATION (GENETICS);

EID: 0037462813     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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