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Dokumenttyp:
journal article 
Autor(en):
Jalkanen, R; Demirci, FY; Tyynismaa, H; Bech-Hansen, T; Meindl, A; Peippo, M; Mäntyjärvi, M; Gorin, MB; Alitalo, T 
Titel:
A new genetic locus for X linked progressive cone-rod dystrophy. 
Abstract:
X linked progressive cone-rod dystrophy (COD) is a retinal disease primarily affecting the cone photoreceptors. The disease is genetically heterogeneous and two loci, COD1 (Xp21.1-11.4) and COD2 (Xq27.2-28), have been previously identified. COD1 was recently shown to be caused by mutations in RPGR exon ORF15 (Xp21.1), the gene that is also responsible for RP3 type retinitis pigmentosa. In this study, we performed a linkage study to map the disease gene in a large Finnish family with X linked con...    »
 
Zeitschriftentitel:
J Med Genet 
Jahr:
2003 
Band / Volume:
40 
Heft / Issue:
Seitenangaben Beitrag:
418-23 
Sprache:
eng 
Print-ISSN:
0022-2593 
TUM Einrichtung:
Frauenklinik und Poliklinik