• Mutation; HGNC; HGNC:9884; RB1; Simple; p.Arg467Ter (c.1399C>T); ClinVar=VCV000092839; Zygosity=Homozygous (PubMed=23498719).
  

PubMed=4018796; DOI=10.1007/BF00295364
Squire J.A., Gallie B.L., Phillips R.A.
A detailed analysis of chromosomal changes in heritable and non-heritable retinoblastoma.
Hum. Genet. 70:291-301(1985)

PubMed=2751270
Chan H.S.L., Canton M.D., Gallie B.L.
Chemosensitivity and multidrug resistance to antineoplastic drugs in retinoblastoma cell lines.
Anticancer Res. 9:469-474(1989)

PubMed=1682862; DOI=10.1016/S0161-6420(91)32134-1
Chan H.S.L., Thorner P.S., Haddad G., Gallie B.L.
Multidrug-resistant phenotype in retinoblastoma correlates with P-glycoprotein expression.
Ophthalmology 98:1425-1431(1991)

PubMed=7689221; DOI=10.1073/pnas.90.16.7578; PMCID=PMC47185
Godbout R., Squire J.A.
Amplification of a DEAD box protein gene in retinoblastoma cell lines.
Proc. Natl. Acad. Sci. U.S.A. 90:7578-7582(1993)

PubMed=11520568; DOI=10.1016/S0165-4608(01)00427-7
Chen D., Gallie B.L., Squire J.A.
Minimal regions of chromosomal imbalance in retinoblastoma detected by comparative genomic hybridization.
Cancer Genet. Cytogenet. 129:57-63(2001)

PubMed=23498719; DOI=10.1016/S1470-2045(13)70045-7
Rushlow D.E., Mol B.M., Kennett J.Y., Yee S., Pajovic S., Theriault B.L., Prigoda-Lee N.L., Spencer C., Dimaras H., Corson T.W., Pang R., Massey C., Godbout R., Jiang Z., Zacksenhaus E., Paton K., Moll A.C., Houdayer C., Raizis A., Halliday W., Lam W.L., Boutros P.C., Lohmann D.R., Dorsman J.C., Gallie B.L.
Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.
Lancet Oncol. 14:327-334(2013)