Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1

American Journal of Human Genetics

Volumn 70, Issue 4, 2002, Pages 955-964

  Eichers, Erica R ^a   Green, Jane S ^d   Stockton, David W ^a,b,c   Jackman, Christopher S ^e   Whelan, James ^d   McNamara, J Arch ^d,f   Johnson, Gordon J ^d,g   Lupski, James R ^a,c   Katsanis, Nicholas ^a,h  

^a Dan L Luke Cancer Center   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c Texas Children's Hospital   (United States)

^d MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^e UNIVERSITY OF OTTAWA   (Canada)

^f WILLS EYE HOSPITAL   (United States)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; RETINALDEHYDE BINDING PROTEIN 1; RETINOID BINDING PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 15; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; HUMAN; MALE; MULTIGENE FAMILY; NEWFOUNDLAND ROD CONE DYSTROPHY; NULL ALLELE; PATHOGENESIS; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; RETINA DYSTROPHY; RNA SPLICING;

EID: 0036206758     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/339688     Document Type: Article

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