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Genetsko-epidemiološko istraživanje dyskeratosis follicularis i difuznih palmoplantranih keratodermija u Sloveniji

其他書名	doktorski rad
出版	J. Miljković, 2004
URL	http://books.google.com.hk/books?id=17uLOQAACAAJ&hl=&source=gbs_api

註釋During our studies on hereditary disorders of keratinisation the observation was made that in certain disorders some additional factors play a role in expression of symptoms beside the autosomal dominant gene. In an attempt to clarify this problem the epidemiological approach was used. Two autosomal dominant disorders were studied: DPPK and Mb. Darier. Data on patients for last 30 years (1973-2003) were collected from hospital records, by routine clinical work as well as by visiting patients at their homes. The data were used for compilation of pedigrees. 170 patients with diffuse HPPK were registered, 34 of them were isolated cases. The prevalence is 8,3:100000. The ratio affected/unaffected was 0,485: the involved patients ratio differs high significant than 50 % (exact binom test: p