Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying stargardt disease

Genomics

Volumn 48, Issue 1, 1998, Pages 139-142

  Gerber, S ^a   Rozet, J M ^a   Van De Pol, T J R ^b   Hoyng, C B ^b   Munnich, A ^a   Blankenagel, A ^c   Kaplan, J ^a   Cremers, F P M ^b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; COMPLEMENTARY DNA;

ARTICLE; EXON; GENE MUTATION; GENE STRUCTURE; HUMAN; INTRON; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; STARGARDT DISEASE;

EID: 0031913443     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.5164     Document Type: Article

References (9)

1. Allikmets R., Singh N., Sun H., Shroyer N. F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P., Li Y., Anderson K. L., Lewin R. A., Nathans J., Leppert M., Dean M., Lupski J. R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR. Nat. Genet. 15:1997;236-246.
2. Allikmets R. Correction. A photoreceptor cell-specific ATP-binding transporter gene (ABCR. Nat. Genet. 17:1997;122.
3. Allikmets R., Shroyer N. F., Singh N., Seddon J. M., Lewis R. A., Bernstein P. S., Peiffer A., Zabriskie A., Li Y., Hutchinson A., Dean M., Lupski J. R., Leppert M. Mutation of the Stargardt disease gene (ABCR. Science. 277:1997;1805-1807.
4. Gerber S., Rozet J. M., Bonneau D., Souied E., Camuzat A., Dufier J. L., Amalric P., Weissenbach J., Munnich A., Kaplan J. A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. Am. J. Hum. Genet. 56:1995;396-399.
5. Gerber S., Kaplan J., Larget-Piet D., Rozet J. M., Dollfus H., Dufier J. L., Odent S., Postel-Vinay A., Janin N., Briard M. D., Frézal J., Munnich A. A gene for Stargardt's disease (fundus flavimaculatus. Nat. Genet. 5:1993;308-311.
6. Hoyng C. B., Poppelaars F., van de Pol T. J. R., Kremer H., Pinckers A. J. L., Deutman A. F., Cremers F. P. M. Genetic fine mapping of the gene for recessive Stargardt disease. Hum. Genet. 98:1996;500-504.
7. Rozet J. M., Gerber S., Perrault I., Camuzat A., Calvas P., Viegas-Pequignot E., Molina-Gomez D., Le Paslier D., Chumakov I., Munnich A., Kaplan J. Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD). Genomics. 36:1996;554-556.
8. Shapiro M. B., Senapathy P. RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15:1987;7155-7174.
9. Stargardt K. Uber familiäre, progressive Degeneration in der Maculagegend des Auges. Albrecht von Graefes Arch. Ophthalmol. 71:1909;534-550.