Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy

American Journal of Ophthalmology

Volumn 138, Issue 4, 2004, Pages 670-671

  Yoshida, Shigeo ^a   Arita, Ryo Ichi ^a   Yoshida, Ayako ^a   Tada, Hanayo ^a   Emori, Aki ^a   Noda, Yoshihiro ^a   Nakao, Shintaro ^a   Fujisawa, Kimihiko ^a   Ishibashi, Tatsuro ^a  

^a KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; EYE FUNDUS; FAMILIAL DISEASE; FAMILIAL EXUDATIVE VITREORETINOPATHY; FEMALE; FZD4 GENE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; OPHTHALMOLOGY; PRIORITY JOURNAL; VITREORETINOPATHY;

ADOLESCENT; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EYE DISEASES, HEREDITARY; FEMALE; FRIZZLED RECEPTORS; HUMANS; JAPAN; MUTATION, MISSENSE; PEDIGREE; PROTEINS; RECEPTORS, CELL SURFACE; RECEPTORS, G-PROTEIN-COUPLED; RETINAL DISEASES; VITREOUS BODY;

EID: 7044264607     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2004.05.001     Document Type: Article

References (5)

1. W.E. Benson Familial exudative vitreoretinopathy Trans Am Ophthalmol Soc 93 1995 473 521
2. D. Shukla, J. Singh, G Sudheer Familial exudative vitreoretinopathy (FEVR). Clinical profile and management Indian J Ophthalmol 51 2003 323 328
3. J. Robitaille, M.L. MacDonald, A Kaykas Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy Nat Genet 32 2002 326 330
4. S. Yoshida, A. Yoshida, S Nakao Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis Am J Ophthalmol 137 2004 586 588
5. H. Kondo, H. Hayashi, K. Oshima, T. Tahira, K. Hayashi Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity Br J Ophthalmol 87 2003 1291 1295