Perinnöllisyyspoliklinikka

Julkaisut 2002
Publications 2002

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1 Hanein S et al. Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in leber congenital amaurosis pedigrees of finnish origin.
2 Juvonen V et al. Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia.
3 Juvonen V et al. Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland.
4 The Multiple Leiomyoma Consortium, Hietala M. Germline mutations in FH predispose to dominantly inherited uterine tibroids, skin leiomyomata and papillary renal cell cancer.

Julkaisutietokanta 13.10.2004 Publications Data Base 13.10.2004