-transparent.png){kind=logo}
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.
M Janson, and
E Kock, and
M Nordenskjöld
June 1991,
American journal of medical genetics,
M Janson, and
E Kock, and
M Nordenskjöld
July 1991,
Cancer genetics and cytogenetics,
M Janson, and
E Kock, and
M Nordenskjöld
April 1985,
Science (New York, N.Y.),
M Janson, and
E Kock, and
M Nordenskjöld
March 1987,
Ophthalmic paediatrics and genetics,
M Janson, and
E Kock, and
M Nordenskjöld
August 1993,
American journal of human genetics,
M Janson, and
E Kock, and
M Nordenskjöld
August 1969,
National Cancer Institute monograph,
M Janson, and
E Kock, and
M Nordenskjöld
February 1995,
Nature genetics,
M Janson, and
E Kock, and
M Nordenskjöld
January 1973,
American journal of human genetics,
M Janson, and
E Kock, and
M Nordenskjöld
December 1971,
Lancet (London, England),
M Janson, and
E Kock, and
M Nordenskjöld
January 1976,
Reumatologia,
