TY  - JOUR 
AU  - Colombo, M.
AU  - Blok, M. J.
AU  - Whiley, P.
AU  - Santamariña Pena, Marta
AU  - Gutiérrez-Enríquez, S.
AU  - Romero, A.
AU  - Garre, P.
AU  - Becker, A.
AU  - Smith, L. D.
AU  - De Vecchi, G.
AU  - Brandão, R. D.
AU  - Tserpelis, D.
AU  - Brown, M.
AU  - Blanco, A.
AU  - Bonache, S.
AU  - Menéndez, M.
AU  - Houdayer, C.
AU  - Foglia, C.
AU  - Fackenthal, J. D.
AU  - Baralle, D.
AU  - Wappenschmidt, B.
AU  - Díaz-Rubio, E.
AU  - Caldés, T.
AU  - Walker, L.
AU  - Díez, O.
AU  - Vega Gliemmo, Ana
AU  - Spurdle, A. B.
AU  - Radice, P.
AU  - De La Hoya, M.
AU  - Investigators, kConFaB
PY  - 2014
SN  - 0964-6906
UR  - http://hdl.handle.net/20.500.11940/4536
AB  - Loss-of-function germline mutations in BRCA1 (MIM #113705) confer markedly increased risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved in DNA repair pathways and cell-cycle checkpoints. Several BRCA1...
LA  - eng
KW  - Alternative Splicing
KW  - BRCA1 Protein
KW  - Breast
KW  - Female
KW  - Humans
KW  - Protein Isoforms
KW  - RNA, Messenger
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Sequence Analysis, RNA
TI  - Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium
DO  - 10.1093/hmg/ddu075
T2  - HUMAN MOLECULAR GENETICS
M2  - 3666
VL  - 23
ER  -