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Dokumenttyp:
journal article 
Autor(en):
Bader, I; Brandau, O; Achatz, H; Apfelstedt-Sylla, E; Hergersberg, M; Lorenz, B; Wissinger, B; Wittwer, B; Rudolph, G; Meindl, A; Meitinger, T 
Titel:
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of Exon ORF15 
Abstract:
PURPOSE. A comprehensive. screening was conducted for RP2 and retinitis pigmentosa GTPase regulator (RPGR) gene mutations including RPGR exon ORF15 in 58 index patients. The frequency of RPGR mutations was assessed in families with definite X-linked recessive disease (xIRP), and a strategy for analyzing the highly repetitive mutational hot soot in exon ORF15 is provided. METHODS. Fifty-eight apparently unrelated index-patients were screened for mutations in all coding exons of the RP2 and the RP...    »
 
Zeitschriftentitel:
Invest Ophthalmol Vis Sci 
Jahr:
2003 
Band / Volume:
44 
Heft / Issue:
Seitenangaben Beitrag:
1458-1463 
Sprache:
eng 
Print-ISSN:
0146-0404 
TUM Einrichtung:
r Humangenetik; Frauenklinik und Poliklinik