caa a22 4500 467984476 CHVBK 20180323112527.0 cr unu---uuuuu 170328e19900601xx s 000 0 eng 10.1007/BF00276320 doi (NATIONALLICENCE)springer-10.1007/BF00276320 Constitutional deletions predisposing to retinoblastoma [Elektronische Daten] [Marie Janson, Erik Kock, Magnus Nordenskjöld] Summary: Patients with the heritable form of retinoblastoma carry a constitutional mutation in the retinoblastoma locus in heterozygous form. The majority of such cases are the result of new mutations, which may be inherited by their offspring. We have identified such constitutional mutations within the retinoblastoma locus in 3 out of 66 investigated unrelated gene carriers, using Southern blot analysis and Rb-gene cDNA-probes. The identified mutations were found to be located in different regions of the gene. These analyses may be used to identify or exclude close relatives at risk for the disease. In 2 of the 3 cases, the identified aberrations were used for informed genetic counselling of relatives. Springer-Verlag, 1990 Janson Marie Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden aut Kock Erik Department of Ophthalmology, Karolinska Hospital, S-104 01, Stockholm, Sweden aut Nordenskjöld Magnus Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden aut Human Genetics Springer-Verlag 85/1(1990-06-01), 21-24 0340-6717 85:1<21 1990 85 439 https://doi.org/10.1007/BF00276320 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00276320 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Janson Marie Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden aut NATIONALLICENCE 700 1- Kock Erik Department of Ophthalmology, Karolinska Hospital, S-104 01, Stockholm, Sweden aut NATIONALLICENCE 700 1- Nordenskjöld Magnus Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/1(1990-06-01), 21-24 0340-6717 85:1<21 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer