• 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=18534018; DOI=10.1186/1476-4598-7-50; PMCID=PMC2442611
Valerie Combaret, Sandrine Boyault, Isabelle Iacono, Stephanie Brejon, Raphael Rousseau, Alain Puisieux;
Effect of bortezomib on human neuroblastoma: analysis of molecular mechanisms involved in cytotoxicity.
Mol. Cancer 7:50.1-50.12(2008)

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)