TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
Marielle W G Ruijs, Senno Verhoef, Matti A Rookus, Roelof Pruntel, Annemarie H van der Hout, Frans B L Hogervorst, I Kluijt, Rolf H Sijmons, Cora M Aalfs, Anja Wagner, Margreet G E M Ausems, Nicoline Hoogerbrugge, Christi J van Asperen, Encarna B Gomez Garcia, Hanne Meijers-Heijboer, Leo P ten Kate, Fred H Menko, Laura J van 't Veer
Journal of Medical Genetics Jun 2010, 47 (6) 421-428; DOI: 10.1136/jmg.2009.073429
