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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 3 of 3 1 Extreme founder effect associated with oculocutaneous albinism type 1 (OCA1) on the island of Nias/Indonesia:How clinical genetics may help population genetics Kennerknecht, I. (Ingo); Zühlke, C. (Christine); Hämmerle, J.M. (Johannes). - 2021 Abstract: The island of Nias/Indonesia shows an extremely reduced genetic diversity indicating a strong founder effect. One such disorder that can easily be ascertained during field research is albinism. All over the island, probands with albino phenotype were screened for OCA mutations. A novel homozygous tyrosinase mutation c.701C>T was identified in all four probands studied from very distinct parts of the island. The observed prevalence was 1 in 3,260. We argue that clinical genetics and mutation mapping can add to the combined power of population genetics, linguistics, and archeology for subsequent studies on the origin and migration of a given population. In our example mutation testing for tyrosinase exchange c.701C>T in probands outside Nias might be helpful in tracing the potential homelands of the Niassians. So far, candidate regions highly suggestive by population genetic and by comparative linguistic studies are Sangir Islands, Philippines and Taiwan. Keyword: ddc:614; disease; Forensic medicine; founder effect; incidence of injuries; info:eu-repo/classification/ddc/614; island of Nias; OCA1; oculocutaneous albinism type 1; population bottleneck; population genetic; public preventive medicine; tyrosinase c.701C>T; wounds URN: urn:nbn:de:hbz:6-18049590714 URL: https://repositorium.uni-muenster.de/transfer/miami/0dd37e29-a976-435d-801e-f38a270a569a https://miami.uni-muenster.de/Record/0dd37e29-a976-435d-801e-f38a270a569a https://nbn-resolving.org/urn:nbn:de:hbz:6-18049590714 https://doi.org/10.17879/18049589776 BASE Hide details 2 Klinik des 5p-minus Syndroms (syn. Cri-du-Chat Syndrom):Daten einer Fragebogenerhebung (2010 – 2019) Kennerknecht, I. (Ingo); Kröll-Schulte, A. (Agnes); Schulte, H.R. (Hans). - 2021 BASE Show details 3 Hereditary Prosopagnosia: the First Case Series Grueter, M.; Grueter, T.; Bell, Vaughan. - : Elsevier, 2007 BASE Show details

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