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Titel:

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

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
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...     »
Zeitschriftentitel:
Invest Ophthalmol Vis Sci
Jahr:
2007
Band / Volume:
48
Heft / Issue:
9
Seitenangaben Beitrag:
4012-8
Sprache:
eng
Volltext / DOI:
doi:10.1167/iovs.07-0071
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/17724181
Print-ISSN:
0146-0404
TUM Einrichtung:
Institut für Humangenetik
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