Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma

A deletion in the tumor-suppressor gene, RB, discovered by quantitative multiplex PCR, shows low penetrance (LP), since only 39% of eyes at risk in this family develop retinoblastoma. The 4-kb deletion spanning exons 24 and 25 (delta24-25) is the largest ever observed in an LP retinoblastoma family....

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	American journal of human genetics 1997-09, Vol.61 (3), p.556-570
Hauptverfasser:	BREMNER, R, CHAN DU, D, CONNOLLY-WILSON, M. J, BRIDGE, P, FARID AHMAD, K, MOSTACHFI, H, RUSHLOW, D, DUNN, J. M, GALLIE, B. L
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Canada Carrier Proteins Cell Cycle Proteins Cell Division Cell Nucleus - chemistry DNA-Binding Proteins E2F Transcription Factors Exons - genetics Female Gene Expression Regulation - genetics Gene Expression Regulation, Neoplastic - genetics Genes, Retinoblastoma - genetics Humans Male Medical sciences Melanoma - genetics Nuclear Proteins Ophthalmology Osteosarcoma Pedigree Prenatal Diagnosis Proto-Oncogene Proteins - metabolism Proto-Oncogene Proteins c-mdm2 Recombinant Fusion Proteins Retinoblastoma - diagnosis Retinoblastoma - genetics Retinoblastoma Protein - analysis Retinoblastoma Protein - metabolism Retinoblastoma-Binding Protein 1 Sequence Deletion - genetics Transcription Factor DP1 Transcription Factors - metabolism Tumor Cells, Cultured Tumors and pseudotumors of the eye, orbit, eyelid, lacrimal apparatus
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!