A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case

American Journal of Ophthalmology

Volumn 129, Issue 2, 2000, Pages 260-262

  Palomba, Grazia ^a   Rozzo, Carla ^a   Angius, Andrea ^a   Pierrottet, Chiara O ^b   Orzalesi, Nicola ^b   Pirastu, Mario ^a  

^a CNR   (Italy)

^b SAN PAOLO HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; FEMALE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; PRIORITY JOURNAL; RETINA MACULA VITELLIFORM DEGENERATION; SEQUENCE ANALYSIS;

AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; EYE PROTEINS; FEMALE; HUMANS; MACULAR DEGENERATION; MUTATION, MISSENSE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; VISUAL ACUITY;

EID: 0033981233     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(99)00327-X     Document Type: Article

References (5)

1. Best F. Über eine hereditäre Maculaffection Beiträge zur Vererbungslehre . Z Augenheilkd. 13:1905;199-212.
2. Godel V., Chaine G., Regenborgen L., Coscas G. Best's vitelliform macular dystrophy. Acta Ophthalmol. 175:(suppl):1986;1-31.
3. Petrukhin K., Koisti M.J., Bakall B., et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 19:1998;241-247.
4. Marquardt A., Stöhr H., Passamore L.A., Krämer F., Rivera A., Weber B.H.F. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet. 7:1998;1517-1525.
5. Weingeist T.A., Korbin J.L., Watzke R.C. Histopathology of Best macular dystrophy. Arch Ophthalmol. 100:1982;1108.