Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.

Human mutation

Volumn 18, Issue 2, 2001, Pages 164-

  Simovich, M J ^a   Miller, B ^a   Ezzeldin, H ^a   Kirkland, B T ^a   McLeod, G ^a   Fulmer, C ^a   Nathans, J ^a   Jacobson, S G ^a   Pittler, S J ^a  

^a UNIVERSITY OF SOUTH ALABAMA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; EYE PROTEIN; PROTEIN; RPE65 PROTEIN, BOS TAURUS; RPE65 PROTEIN, HUMAN;

ARTICLE; EXON; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; HUMAN; INTRON; LEBER HEREDITARY OPTIC NEUROPATHY; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; RETINITIS PIGMENTOSA;

CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; GENOTYPE; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; POLYMORPHISM, GENETIC; PROTEINS; RETINITIS PIGMENTOSA;

EID: 0035434629     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1168     Document Type: Article

References (0)