Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns

Détails

ID Serval
serval:BIB_C52F7003FDB6
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
Périodique
Human Molecular Genetics
Auteur(s)
Rivolta  C., Sharon  D., DeAngelis  M. M., Dryja  T. P.
ISSN
0964-6906 (Print)
Statut éditorial
Publié
Date de publication
05/2002
Peer-reviewed
Oui
Volume
11
Numéro
10
Pages
1219-27
Notes
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review --- Old month value: May 15
Résumé
Retinitis pigmentosa (RP) and allied diseases are heterogeneous clinically and genetically. Here we summarize the retinal cell types involved in these diseases, the large number of genes that cause them, and the variety of inheritance patterns that the affected families display. Special consideration is given to unusual inheritance patterns. The aggregate carrier frequency for recessive RP alleles may be as high as 10%.
Mots-clé
Alleles Genes, Dominant Genetic Heterogeneity Heterozygote Humans Retinitis Pigmentosa/*genetics Uniparental Disomy
Pubmed
Web of science
Open Access
Oui
Création de la notice
24/01/2008 15:14
Dernière modification de la notice
09/05/2019 0:59
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