Výsledky vyhledávání - "A H, Arffman"

Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families

Autor: Vesa Kataja, Mia Pirskanen, Arto Mannermaa, Pia Vahteristo, Seppo Heinonen, U. Ristonmaa, Veli-Matti Kosma, Markku Ryynanen, Airi H. Arffman, Jaana M. Hartikainen

Publikováno v: Clinical genetics. 72(4)

Familial aggregation is thought to account for 5-10% of all breast cancer cases, and high penetrance breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 explainor =20% of these. Hundreds of mutations among breast/ovarian cancer families ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ad58f99f23497dab5078ed46cebc633
https://pubmed.ncbi.nlm.nih.gov/17850627

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A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation

Autor: J M, Hartikainen, M M, Pirskanen, A H, Arffman, U K, Ristonmaa, A J, Mannermaa

Publikováno v: Human mutation. 15(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c78364d52fdc5ca398777a247eba5e32
https://pubmed.ncbi.nlm.nih.gov/10980533

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A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation

Autor: Arto Mannermaa, Ulla K. Ristonmaa, Mia Pirskanen, Airi H. Arffman, Jaana M. Hartikainen

Publikováno v: Human Mutation. 15:120-120

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9314fca48ca783067a29d4eb1d424325
https://doi.org/10.1002/(sici)1098-1004(200001)15:1<120::aid-humu31>3.0.co

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