Genetic, functional, and histopathological evaluation of two C‐terminal BRCA1 missense variants

BACKGROUND: The vast majority of BRCA1 missense sequence variants remain uncharacterised for their possible effect on protein expression and function, and therefore are unclassified in terms of their pathogenicity. BRCA1 plays diverse cellular roles and it is unlikely that any single functional assa...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Lovelock, P K, Healey, S, Au, W, Sum, E Y M, Tesoriero, A, Wong, E M, Hinson, S, Brinkworth, R, Bekessy, A, Diez, O, Izatt, L, Solomon, E, Jenkins, M, Renard, H, Hopper, J, Waring, P, Investigators, kConFab, Tavtigian, S V, Goldgar, D, Lindeman, G J, Visvader, J E, Couch, F J, Henderson, B R, Southey, M, Chenevix‐Trench, G, Spurdle, A B, Brown, M A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 2006
Aiheet:
Letter to JMG
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564506/
https://ncbi.nlm.nih.gov/pubmed/15923272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.033258
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