Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis

Human Genetics

Volumn 129, Issue 3, 2011, Pages 319-327

  Wiszniewski, Wojciech ^a   Lewis, Richard Alan ^a   Stockton, David W ^c,d   Peng, Jianlan ^a   Mardon, Graeme ^a   Chen, Rui ^a   Lupski, James R ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARYL HYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE 1; CENTROSOME PROTEIN 290; CRUMBS HOMOLOG 1; DNA; EYE PROTEIN; INOSINE MONOPHOSPHATE DEHYDROGENASE 1; LEBERCILIN; LECITHIN RETINOL ACYLTRANSFERASE; PHOTORECEPTOR SPECIFIC GUANYLATE CYCLASE; PHOTORECEPTOR SPECIFIC HOMEOBOX PROTEIN; RETINAL DEGENERATION 3 PROTEIN; RETINAL DEHYDROGENASE 12; RETINAL PIGMENT EPITHELIUM 65 PROTEIN; RETINITIS PIGMENTOSA GUANOSINE TRIPHOSPHATASE REGULATOR INTERACTING PROTEIN 1; SPERMATOGENESIS ASSOCIATED PROTEIN 7; TUBBY LIKE PROTEIN 1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CEP290 GENE; CONTROLLED STUDY; DNA SEQUENCE; FAMILY STUDY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC TRAIT; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; OUTBREEDING; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RNA SPLICING;

ANTIGENS, NEOPLASM; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENETIC LOCI; HUMANS; LEBER CONGENITAL AMAUROSIS; MULTIFACTORIAL INHERITANCE; NEOPLASM PROTEINS; PEDIGREE; PENETRANCE; QUANTITATIVE TRAIT, HERITABLE;

EID: 79953742947     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0928-y     Document Type: Article

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