Molecular genetics of human retinal dystrophies
- 1 May 1998
- journal article
- review article
- Published by Springer Nature in Eye
- Vol. 12 (3) , 571-579
- https://doi.org/10.1038/eye.1998.147
Abstract
No abstract availableKeywords
This publication has 98 references indexed in Scilit:
- Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase geneNature Genetics, 1997
- Identification of PAHX, a Refsum disease geneNature Genetics, 1997
- Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1Nature Genetics, 1997
- Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindnessNature Genetics, 1996
- Night blindness in Sorsby's fundus dystrophy reversed by vitamin ANature Genetics, 1995
- Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosomeNature Genetics, 1995
- Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19Human Molecular Genetics, 1994
- A gene for usher syndrome type I (USH1A) maps to chromosome 14qGenomics, 1992
- Localization of two genes for usher syndrome type I to chromosome 11Genomics, 1992
- Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28Nature, 1984