"Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible c...
"Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma"
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Publisher
Germany: BioMed Central Ltd
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Language
English
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Publisher
Germany: BioMed Central Ltd
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Scope and Contents
Contents
Retinoblastoma is a malignant tumor of the retina in children <5 years of age and occurs after two mutations in the RB1 gene. The first mutation (M1) is germinal and confers predisposition to the hereditary type, which is transmitted as an autosomal dominant highly penetrant trait, so 90 % of carriers develop retinoblastoma; however, 10 % of carrie...
Alternative Titles
Full title
"Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma"
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4706693
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4706693
Other Identifiers
ISSN
1868-7075,1868-7083
E-ISSN
1868-7083,1868-7075
DOI
10.1186/s13148-015-0167-0
