Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis
Article Abstract:
Classic neurofibromatosis type 2 (NF2) may commonly be caused by somatic mosaicism, which would account for the low rate at which mutations have been detected in sporadic cases. In a study of blood samples from 125 families with NF2, causative mutations were found for 52 of the families. Mutations were identified for 34% of sporadic cases and 54% of familial cases.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
Mosaicism, Neurofibromatosis
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution
Article Abstract:
The significance of the various neocentromeres in the evolution, disease development and karyotype evolution of genomes is discussed.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Science & research, Natural history, Karyotypes, Centromeres
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
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Subjects list: Research, Genetic aspects
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