Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins
- 1 October 1992
- journal article
- case report
- Published by Springer Nature in Nature Genetics
- Vol. 2 (2), 139-143
- https://doi.org/10.1038/ng1092-139
Abstract
No abstract availableKeywords
This publication has 38 references indexed in Scilit:
- Isolation of a candidate gene for Norrie disease by positional cloningNature Genetics, 1992
- The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3Human Molecular Genetics, 1992
- An integumentary mucin (FIM-B.1) from Xenopus laevis homologous with the von Willebrand factorBiochemistry, 1990
- CLUSTAL: a package for performing multiple sequence alignment on a microcomputerGene, 1988
- A sensitive procedure to compare amino acid sequencesJournal of Molecular Biology, 1987
- Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie diseaseCytogenetic and Genome Research, 1986
- A fraction of the mouse genome that is derived from islands of nonmethylated, CpG-rich DNACell, 1985
- A simple method for displaying the hydropathic character of a proteinJournal of Molecular Biology, 1982
- Detection of specific sequences among DNA fragments separated by gel electrophoresisJournal of Molecular Biology, 1975
- CAUSES OF BLINDNESS IN CHILDRENActa Ophthalmologica, 1927