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1دورية أكاديمية
المؤلفون: Semaka, Alicia, Kay, Chris, Belfroid, Rene D. M., Bijlsma, Emilia K., Losekoot, Monique, van Langen, Irene M., van Maarle, Merel C., Oosterloo, Mayke, Hayden, Michael R., van Belzen, Martine J.
المصدر: Semaka , A , Kay , C , Belfroid , R D M , Bijlsma , E K , Losekoot , M , van Langen , I M , van Maarle , M C , Oosterloo , M , Hayden , M R & van Belzen , M J 2015 , ' A new mutation for Huntington disease following maternal transmission of an intermediate allele ' , European Journal of Medical Genetics , vol. 58 , no. 1 , pp. 28-30 . https://doi.org/10.1016/j.ejmg.2014.11.005Test
مصطلحات موضوعية: Huntington disease, Intermediate allele, New mutation, Maternal CAG repeat expansion, HTT gene
الإتاحة: https://doi.org/10.1016/j.ejmg.2014.11.005Test
https://cris.maastrichtuniversity.nl/en/publications/dde7a46a-dee0-4956-8d07-179a756d8db7Test -
2دورية أكاديمية
المؤلفون: Semaka, Alicia, Kay, Chris, Belfroid, Rene D. M., Bijlsma, Emilia K., Losekoot, Monique, van Langen, Irene M., van Maarle, Merel C., Oosterloo, Mayke, Hayden, Michael R., van Belzen, Martine J.
المصدر: Semaka , A , Kay , C , Belfroid , R D M , Bijlsma , E K , Losekoot , M , van Langen , I M , van Maarle , M C , Oosterloo , M , Hayden , M R & van Belzen , M J 2015 , ' A new mutation for Huntington disease following maternal transmission of an intermediate allele ' , European journal of medical genetics , vol. 58 , no. 1 , pp. 28-30 . https://doi.org/10.1016/j.ejmg.2014.11.005Test
مصطلحات موضوعية: HTT gene, Huntington disease, Intermediate allele, Maternal CAG repeat expansion, New mutation, adult, allele, article, CAG repeat, case report, cognitive defect, dementia, differential diagnosis, female, gene, genetic counseling, haplotype, heredity, human, Huntington chorea, mutation, paternity test, penetrance
الإتاحة: https://doi.org/10.1016/j.ejmg.2014.11.005Test
https://hdl.handle.net/11370/8b6a97d6-bcde-4be6-aca3-04a02b8ccf43Test
https://research.rug.nl/en/publications/8b6a97d6-bcde-4be6-aca3-04a02b8ccf43Test
