Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

  1. de la Hoya, M.
  2. Soukarieh, O.
  3. López-Perolio, I.
  4. Vega, A.
  5. Walker, L.C.
  6. van Ierland, Y.
  7. Baralle, D.
  8. Santamariña, M.
  9. Lattimore, V.
  10. Wijnen, J.
  11. Whiley, P.
  12. Blanco, A.
  13. Raponi, M.
  14. Hauke, J.
  15. Wappenschmidt, B.
  16. Becker, A.
  17. Hansen, T.V.O.
  18. Behar, R.
  19. KConFaB Investigators, null
  20. Niederacher, D.
  21. Arnold, N.
  22. Dworniczak, B.
  23. Steinemann, D.
  24. Faust, U.
  25. Rubinstein, W.
  26. Hulick, P.J.
  27. Houdayer, C.
  28. Caputo, S.M.
  29. Castera, L.
  30. Pesaran, T.
  31. Chao, E.
  32. Brewer, C.
  33. Southey, M.C.
  34. van Asperen, C.J.
  35. Singer, C.F.
  36. Sullivan, J.
  37. Poplawski, N.
  38. Mai, P.
  39. Peto, J.
  40. Johnson, N.
  41. Burwinkel, B.
  42. Surowy, H.
  43. Bojesen, S.E.
  44. Flyger, H.
  45. Lindblom, A.
  46. Margolin, S.
  47. Chang-Claude, J.
  48. Rudolph, A.
  49. Radice, P.
  50. Galastri, L.
  51. Olson, J.E.
  52. Hallberg, E.
  53. Giles, G.G.
  54. Milne, R.L.
  55. Andrulis, I.L.
  56. Glendon, G.
  57. Hall, P.
  58. Czene, K.
  59. Blows, F.
  60. Shah, M.
  61. Wang, Q.
  62. Dennis, J.
  63. Michailidou, K.
  64. McGuffog, L.
  65. Bolla, M.K.
  66. Antoniou, A.C.
  67. Easton, D.F.
  68. Couch, F.J.
  69. Tavtigian, S.
  70. Vreeswijk, M.P.
  71. Parsons, M.
  72. Meeks, H.D.
  73. Martins, A.
  74. Goldgar, D.E.
  75. Spurdle, A.B.
  76. Mostrar todos os autores +
Revista:
Human Molecular Genetics

ISSN: 1460-2083,  0964-6906

Ano de publicación: 2016

Volume: 25

Número: 11

Páxinas: 2256-2268

Tipo: Artigo

DOI: 10.1093/HMG/DDW094 GOOGLE SCHOLAR lock_openAcceso aberto editor
Fonte de datos: Scopus