X-linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene

Biochemical and Biophysical Research Communications

Volumn 268, Issue 2, 2000, Pages 370-372

  Hiraoka, Miki ^a   Trese, Michael T ^b   Shastry, Barkur S ^a  

^a OAKLAND UNIVERSITY   (United States)

^b WILLIAM BEAUMONT HOSPITAL   (United States)

Author keywords

Gene; Insertion; Mutation; Retina; X linked

Indexed keywords

AMINO ACID;

ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; GENE INSERTION; GENE MUTATION; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINOSCHISIS; VITREORETINOPATHY; X CHROMOSOME LINKAGE;

EID: 0034673279     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.2000.2133     Document Type: Article

References (14)

1. Yanoff M., Rahn E. K., Zimmerman L. E. Arch. Ophthalmol. 79:1968;49-53.
2. Manschot W. A. Arch. Ophthalmol. 88:1972;131-137.
3. Geiser E. P., Falls H. F. Am. J. Ophthalmol. 51:1961;1193-1200.
4. George N. D. L., Yates J. R. W., Moore A. T. Arch. Ophthalmol. 114:1996;247-280.
5. Arden G. B., Gorin M. B., Polkinghorne P. J., Jay M., Bird A. C. Am. J. Ophthalmol. 105:1998;590-595.
6. Greven C. M., Moreno R. J., Tasman W. Trans. Am. Ophthalmol. Soc. 88:1990;211-228.
7. Keunen J. E. E., Hoppenbrouwers R. W. J. N. Ophthalmolgica. 191:1985;146-149.
8. Pearson R., Jagger J. Br. J. Ophthalmol. 73:1989;311-313.
9. Burgen A. A. B., Brink J. B., Bleeker-Wagemaker L. M., Schooneveld M. J. J. Med. Genet. 31:1994;972-975.
10. Pawar H., Bingham E. L., Lunetta K. L. Hum. Hered. 45:1995;206-210.
11. Shastry B. S., Hejtmanick J. F., Rodriguez A., Rodriguez F., Tamayo M. L. J. Med. Genet. 34:1997;504-506.
12. Sauer C. G., Gehring A., Warneke-Wittstock R., Marquardt Ewing C. C., Gibson A., Lorenz B., Jurklies B., Weber B. H. F. Nat. Genet. 17:1997;164-170.
13. den Dunnen J. T. Hum. Mol. Genet. 7:1998;1185-1192.
14. Shastry B. S., Hejtmancik J. F., Trese M. T. Hum. Mutat. 9:1997;396-401.