[Wilson's disease in the German Democratic Republic. I. Genetics and epidemiology].
The experiences of the central institution for Wilson's disease are reported. On the basis of 126 patients who come from 90 clans with 92 families the authors adopt a definite attitude to the problem of genetics, epidemiology and genetic family consultation. The unexceptional validity of the autosomal-recessive hereditary transmission may be confirmed. An incidence of 2.9/100,000 is assumed, from which a gene frequency of 0.53% and a frequency of heterozygotes of 1.05% can be estimated. The questions of the genetic background of polyphenia are discussed.
D000367:Age Factors; D002570:Ceruloplasmin / Q000172:deficiency / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D005817:Genetic Counseling; D006527:Hepatolenticular Degeneration / Q000145:classification / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D012737:Sex Factors
D002570:Ceruloplasmin
Untersuchungen zur Wilsonschen Erkrankung in der DDR Teil I: genetik und Epidemiologie.