• Mutation; HGNC; HGNC:427; ALK; Simple; p.Phe1174Leu (c.3522C>A); ClinVar=VCV000217852; Zygosity=Heterozygous (PubMed=18923523; PubMed=31452835).
  

PubMed=7705946; DOI=10.1002/ijc.2910610208
Combaret V., Turc-Carel C., Thiesse P., Rebillard A.-C., Frappaz D., Haus O., Philip T., Favrot M.-C.
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
Thiele C.J.
Neuroblastoma.
(In book chapter) Human cell culture. Vol. 1. Cancer cell lines part 1; Masters J.R.W., Palsson B.O. (eds.); pp.21-53; Kluwer Academic Publishers; New York; USA (1999)

PubMed=18923523; DOI=10.1038/nature07398
Janoueix-Lerosey I., Lequin D., Brugieres L., Ribeiro A., de Pontual L., Combaret V., Raynal V., Puisieux A., Schleiermacher G., Pierron G., Valteau-Couanet D., Frebourg T., Michon J., Lyonnet S., Amiel J., Delattre O.
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
Bouzas-Rodriguez J., Cabrera J.R., Delloye-Bourgeois C., Ichim G., Delcros J.-G., Raquin M.-A., Rousseau R., Combaret V., Benard J., Tauszig-Delamasure S., Mehlen P.
Neurotrophin-3 production promotes human neuroblastoma cell survival by inhibiting TrkC-induced apoptosis.
J. Clin. Invest. 120:850-858(2010)

PubMed=31452835; DOI=10.18632/oncotarget.27119; PMCID=PMC6697636
Durand S., Pierre-Eugene C., Mirabeau O., Louis-Brennetot C., Combaret V., Colmet-Daage L., Blanchard O., Bellini A., Daudigeos-Dubus E., Raynal V., Schleiermacher G., Baulande S., Delattre O., Janoueix-Lerosey I.
ALK mutation dynamics and clonal evolution in a neuroblastoma model exhibiting two ALK mutations.
Oncotarget 10:4937-4950(2019)