Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: Direct evidence for the involvement of CRX in the development of photoreceptor function

Human Molecular Genetics

Volumn 8, Issue 2, 1999, Pages 299-305

  Swaroop, Anand ^a,b   Wang, Qing Liang ^c   Wu, Weiping ^a   Cook, Jason ^a   Coats, Caraline ^a   Xu, Siqun ^d   Chen, Shiming ^d   Zack, Donald J ^c   Sieving, Paul A ^a,e  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HOMEODOMAIN PROTEIN; RHODOPSIN; TRANSCRIPTION FACTOR; TRYPTOPHAN;

ADOLESCENT; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CODON; DNA BINDING; ELECTRORETINOGRAPHY; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; HETEROZYGOSITY; HOMEOBOX; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; NORMAL HUMAN; OPHTHALMOLOGY; PHOTORECEPTOR; PRIORITY JOURNAL; PROMOTER REGION; RETINA CONE; RETINA ROD; SCHOOL CHILD; TRANSCRIPTION REGULATION;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BINDING SITES; CHILD; DNA; FEMALE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; PHOTORECEPTORS; PROMOTER REGIONS (GENETICS); PROTEIN BINDING; RHODOPSIN; SEQUENCE HOMOLOGY, AMINO ACID; TRANS-ACTIVATION (GENETICS); TRANS-ACTIVATORS;

EID: 0032929074     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.2.299     Document Type: Article

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