| Publication Type |
Journal Article |
| School or College |
School of Medicine |
| Department |
Ophthalmology |
| Creator |
Zhang, Kang |
| Other Author |
Toomes, Carmel; Bottomley, Helen M.; Scott, Sheila; Mackey, David A.; Craig, Jamie E.; Appukuttan, Binoy; Stout, J. Timothy; Flaxel, Christina J.; Black, Graeme C. M.; Fryer, Alan; Downey, Louise M.; Inglehearn, Chris F. |
| Title |
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy |
| Date |
2004 |
| Description |
Mutations in the frizzled-4 gene (FZD4) have recently been associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) in families linking to the EVR1 locus on the long arm of chromosome 11. The purpose of this study was to screen FZD4 in a panel of 40 patients with FEVR to identify the types and location of mutations and to calculate what proportion of this heterogeneous condition is attributable to FZD4 mutations. |
| Type |
Text |
| Publisher |
Association for Research in Vision and Ophthalmology |
| Volume |
45 |
| Issue |
7 |
| First Page |
2083 |
| Last Page |
2090 |
| Subject |
Frizzled-4 gene; FZD4; Mutation; autosomal dominant familial exudative autosomal dominant familial exudative; FEVR |
| Subject MESH |
Genetics; Mutation |
| Language |
eng |
| Bibliographic Citation |
Toomes C, Bottomley HM, Scott S, Mackey DA, Craig JE, Appukuttan B, Stout JT, Flaxel CJ, Zhang K, Black GC, Fryer A, Downey LM, Inglehearn CF. (2004). Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci, 45(7), 2083-90 |
| Rights Management |
(c) Association for Research in Vision and Ophthalmology |
| Format Medium |
application/pdf |
| Identifier |
ir-main,1866 |
| ARK |
ark:/87278/s69p3js8 |
| Setname |
ir_uspace |
| ID |
703152 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s69p3js8 |
