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- W2572184805 abstract "Cytogenetic Investigations in a Kinship with Fabry-Anderson-Disease ( A ngiokeratoma Corporis Di //usum U niversale ) Summary. Mitotic chromosome examinations were carried out in a kinship of three generations with Fabry-Anderson-syadrome consisting of two affected females, two affected males, a supposedly affected male and female as well as a healthy female. _All of those examined had 46 chromosomes, and the determination of chromosomal sex was equivalent to the phenotypica] sex. It was not possible to discover any causal connections between the microscopically analysed chromosomes and the affected persons. Different types of gene, chromosome and genome mutations are discussed which are in accord with the cytogenetic observations and which can be taken in consideration for the interpretation of the genetic basis in Fahry-Anderson-dlsease. In addition, different types of gene manifestations in homo-, heteroand hemizygote conditions are mentioned, which are in relation to the hypotheses of gene dosis compensation. Correlations between numerical chromosome abnormalities and atypical X-chromosomal inheritance are also shown." @default.
- W2572184805 created "2017-01-26" @default.
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- W2572184805 date "1969-01-01" @default.
- W2572184805 modified "2023-09-27" @default.
- W2572184805 title "Cytogenetische Untersuchungen in einer Sippe mit Morbus Fabry-Anderson (Angiokeratoma corporis diflhsum universale)" @default.
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- W2572184805 hasPublicationYear "1969" @default.
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