Chromosom-5q31-abhängige Hornhautdystrophien: Entwurf einer neuen Klassifizierung [Chromosome 5q31 linked corneal dystrophies: outline for a new classification]

Details

Serval ID
serval:BIB_A3C73DE839C9
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Chromosom-5q31-abhängige Hornhautdystrophien: Entwurf einer neuen Klassifizierung [Chromosome 5q31 linked corneal dystrophies: outline for a new classification]
Journal
Klinische Monatsblätter für Augenheilkunde
Author(s)
Munier F.L., Schorderet D.F.
ISSN
0023-2165
Publication state
Published
Issued date
03/2001
Peer-reviewed
Oui
Volume
218
Number
3
Pages
136-139
Language
german
Notes
Publication types: English Abstract ; Journal Article ; Review - Publication Status: ppublish
Abstract
The following article is an attempt to summarise the recent genetic findings in chromosome 5q31 corneal dystrophies. It also shows the remarkable correlation between genotype and phenotype characterising them. Basically, 6 main heterozygote mutations are responsible for 6 different phenotypes, corresponding to the following 4 histologic forms of corneal deposits: a) amyloid or lattice, b) granular, c) amyloid or lattice and granular, d) non-amyloid and non-granular (fibrous).
Keywords
Chromosomes, Human, Pair 5/genetics, Cornea/pathology, Cornea/physiopathology, Corneal Dystrophies, Hereditary/classification, Corneal Dystrophies, Hereditary/genetics, Genotype, Humans, Linkage (Genetics), Mutation, Phenotype
Pubmed
Web of science
Create date
28/01/2008 12:58
Last modification date
20/08/2019 15:09
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