Mutations in the CRB1 gene cause Leber congenital amaurosis

Archives of Ophthalmology

Volumn 119, Issue 3, 2001, Pages 415-420

  Lotery, Andrew J ^a   Jacobson, Samuel G ^b   Fishman, Gerald A ^c   Weleber, Richard G ^d   Fulton, Anne B ^e   Namperumalsamy, P ^f   Héon, Elise ^g   Levin, Alex V ^h   Grover, Sandeep ^c   Rosenow, Justin R ^a   Kopp, Kelly K ^a   Sheffield, Val C ^a   Stone, Edwin M ^a  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^d CASEY EYE INSTITUTE   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f ARAVIND EYE HOSPITAL   (India)

^g Eye Research Institute of Canada   (Canada)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; DNA SEQUENCE; GENE MUTATION; GENOTYPE; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL;

EID: 0035090259     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.119.3.415     Document Type: Article

References (26)

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5. Mutations in RPE65 cause Leber's congenital amaurosis
6. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
7. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
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15. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
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17. Isolation of DNA from biological specimens without extraction with phenol
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19. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
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