Article: article from journal or magazin.
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Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
Human Molecular Genetics
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review --- Old month value: May 15
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%.
Alleles Genes, Dominant Genetic Heterogeneity Heterozygote Humans Retinitis Pigmentosa/*genetics Uniparental Disomy
Web of science
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