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Title:

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.

Document type:
Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Prokisch, H; Hartig, M; Hellinger, R; Meitinger, T; Rosenberg, T
Abstract:
PURPOSE: To perform a nation-wide elucidation of the prevalence and the mutation spectrum in X-linked retinitis pigmentosa (XLRP), and to make genotype-phenotype comparisons. METHODS: The study comprised 96 affected males and 149 female carriers from 42 families representing all identified XLRP individuals in the Danish population (5.4 million inhabitants). RPGR and RP2 were screened for mutations in 34 families, the medical files of the patients were scrutinized, and phenotype data were extract...     »
Journal title abbreviation:
Invest Ophthalmol Vis Sci
Year:
2007
Journal volume:
48
Journal issue:
9
Pages contribution:
4012-8
Language:
eng
Fulltext / DOI:
doi:10.1167/iovs.07-0071
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/17724181
Print-ISSN:
0146-0404
TUM Institution:
Institut für Humangenetik
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