A case of Kniest dysplasia with retinal detachment and the mutation analysis

American Journal of Ophthalmology

Volumn 136, Issue 6, 2003, Pages 1186-1188

  Yokoyama, Toshiyuki ^a   Nakatani, Satoru ^a   Murakami, Akira ^a  

^a JUNTENDO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2; SILICONE OIL;

ADOLESCENT; ARTICLE; BASE PAIRING; CASE REPORT; CHONDRODYSPLASIA; CLINICAL FEATURE; DNA DETERMINATION; DNA ISOLATION; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRON; KNIEST DYSPLASIA; MALE; OPHTHALMOSCOPY; PERIPHERAL LYMPHOCYTE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DETACHMENT; VISUAL ACUITY; VITRECTOMY;

EID: 0344873168     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(03)00713-X     Document Type: Article

References (4)

1. Spranger J., Winterpacht A., Zabel B. The type II collagenopathies A spectrum of chondrodysplasia . Eur J Pediatr. 153:1994;56-65.
2. Maumenee I.H., Traboulsi E.I. The ocular findings in Kniest dysplasia. Am J Ophthalmol. 100:1985;155-160.
3. Williams C.J., Harrison D.A., Hoplinson I., et al. Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA. Hum Mutat. 1:1992;403-416.
4. Tiller G.Z., Weis M.A., Polumbo P.A., et al. An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenital. Am J Hum Genet. 2:1995;388-395.