Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
Details
Serval ID
serval:BIB_C52F7003FDB6
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
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
Journal
Human Molecular Genetics
ISSN
0964-6906 (Print)
Publication state
Published
Issued date
05/2002
Peer-reviewed
Oui
Volume
11
Number
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
Abstract
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%.
Keywords
Alleles Genes, Dominant Genetic Heterogeneity Heterozygote Humans Retinitis Pigmentosa/*genetics Uniparental Disomy
Pubmed
Web of science
Open Access
Yes
Create date
24/01/2008 15:14
Last modification date
20/08/2019 16:40
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