• Mutation; HGNC; HGNC:427; ALK; Simple; p.Phe1174Leu (c.3520T>C); ClinVar=VCV000217849; Zygosity=Heterozygous (PubMed=18923523).
  

PubMed=7705946; DOI=10.1002/ijc.2910610208
Valerie Combaret, Claude Turc-Carel, Philippe Thiesse, Anne-Catherine Rebillard, Didier Frappaz, Odile Haus, Thierry Philip, Marie-Christine Favrot;
Sensitive detection of numerical and structural aberrations of chromosome 1 in neuroblastoma by interphase fluorescence in situ hybridization. Comparison with restriction fragment length polymorphism and conventional cytogenetic analyses.
Int. J. Cancer 61:185-191(1995)

DOI=10.1007/0-306-46872-7_2
Carol Jeanne Thiele;
Neuroblastoma.
(In book chapter) Human cell culture. Vol. 1. Cancer cell lines part 1; Masters, John R.W. & Palsson, Bernhard Orn (eds.); pp.21-53; Kluwer Academic Publishers; New York; USA (1999)

PubMed=18923523; DOI=10.1038/nature07398
Isabelle Janoueix-Lerosey, Delphine Lequin, Laurence Brugieres, Agnes Ribeiro, Loic de Pontual, Valerie Combaret, Virginie Raynal, Alain Puisieux, Gudrun Schleiermacher, Gaelle Pierron, Dominique Valteau-Couanet ...Show all 16 authors... , Thierry Frebourg, Jean Michon, Stanislas Lyonnet, Jeanne Amiel, Olivier Delattre; Show fewer authors
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.
Nature 455:967-970(2008)

PubMed=20160348; DOI=10.1172/JCI41013; PMCID=PMC2827960
Jimena Bouzas-Rodriguez, Jorge Ruben Cabrera, Celine Delloye-Bourgeois, Gabriel Ichim, Jean-Guy Delcros, Marie-Anne Raquin, Raphael Rousseau, Valerie Combaret, Jean Benard, Servane Tauszig-Delamasure, Patrick Mehlen;
Neurotrophin-3 production promotes human neuroblastoma cell survival by inhibiting TrkC-induced apoptosis.
J. Clin. Invest. 120:850-858(2010)