Missense mutation (Arg121Trp) in the norrie disease gene associated with X-linked exudative vitreoretinopathy
- 1 January 1995
- journal article
- case report
- Published by Hindawi Limited in Human Mutation
- Vol. 6 (3), 257-259
- https://doi.org/10.1002/humu.1380060312
Abstract
No abstract availableThis publication has 9 references indexed in Scilit:
- Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structureNature Genetics, 1993
- Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish familiesHuman Molecular Genetics, 1993
- A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathyNature Genetics, 1993
- X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.British Journal of Ophthalmology, 1993
- Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucinsNature Genetics, 1992
- Isolation and characterization of a candidate gene for Norrie diseaseNature Genetics, 1992
- Isolation of a candidate gene for Norrie disease by positional cloningNature Genetics, 1992
- Primary Retinal Dysplasia Transmitted as X-Chromosome-Linked Recessive DisorderAmerican Journal of Ophthalmology, 1978
- Familial Exudative VitreoretinopathyAmerican Journal of Ophthalmology, 1969