Two Japanese patients with mutations in the XLRS1 gene

Retina

Volumn 22, Issue 3, 2002, Pages 354-357

  Tuvdendorj, Demidmaa ^a   Isashiki, Yasushi ^a,b   Ohba, Norio ^a   Sonoda, Shozo ^a   Izumo, Shuji ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; EYE FUNDUS; GENE; GENE LOCATION; GENE MUTATION; HUMAN; JAPAN; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; RETINOSCHISIS; X CHROMOSOME LINKED DISORDER; XLRS1 GENE;

ADULT; CHILD; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; HUMANS; JAPAN; LINKAGE (GENETICS); MALE; MUTATION, MISSENSE; PEDIGREE; PHOTORECEPTORS, VERTEBRATE; RETINAL DEGENERATION; X CHROMOSOME;

EID: 0036627396     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006982-200206000-00017     Document Type: Article

References (5)

1. Robertson JE Jr, Westra I. Hereditary vitreoretinal degenerations. In: Craven L, ed. Retina. St. Louis: Mosby-Year Book, 1994:515-529.
2. Sauer CG, Gehrig A, Warneke-Wittstock R, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997;17:164-170.
3. The Human Gene Mutation Database Cardiff. Available at: http://www.archive.uwcm.ac.uk/uwcm/mg/hgmd0.html. Accessed April 26, 2001.
4. Grayson C, Reid SNM, Ellis JA, et al. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum Mol Genet 2000;9:1873-1879.
5. Roesch MT, Ewing CC, Gibson AE, Weber BH. The natural history of X-linked retinoschisis. Can J Ophthalmol 1998;33: 149-158.