A melanoma-associated germline mutation in exon 1beta inactivates p14ARF

The INK4a/ARF locus encodes the cyclin dependent kinase inhibitor, p16(INK4a) and the p53 activator, p14ARF. These two proteins have an independent first exon (exon 1alpha and exon 1beta, respectively) but share exons 2 and 3 and are translated in different reading frames. Germline mutations in this...

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Veröffentlicht in:	Oncogene 2001-09, Vol.20 (39), p.5543
Hauptverfasser:	Rizos, H, Puig, S, Badenas, C, Malvehy, J, Darmanian, A P, Jiménez, L, Milà, M, Kefford, R F
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Sequence Base Sequence Cell Division Cytoplasm - metabolism Exons Female Genetic Predisposition to Disease Germ-Line Mutation Humans Melanoma - genetics Melanoma - metabolism Melanoma - pathology Molecular Sequence Data Mutagenesis, Insertional Pedigree Proteins - genetics Proteins - metabolism Tumor Cells, Cultured Tumor Suppressor Protein p14ARF Tumor Suppressor Protein p53 - metabolism
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