Linked Life Data

10671068

Source:http://linkedlifedata.com/resource/pubmed/id/10671068

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2000-2-8
pubmed:abstractText
Hereditary predisposition to retinoblastoma is caused by germline mutations in the RB1 gene. Mutation analysis in this gene is important because knowledge of the causative mutation is often required for accurate risk prediction in relatives. We have performed RB1 gene mutation analysis in 45 patients with hereditary retinoblastoma. Screening by heteroduplex and SSCP analysis resulted in the identification of small mutations in 28 (62%) patients. Recurrent mutations, mostly CpG-transitions, were found in 16 patients. Two patients with isolated bilateral retinoblastoma showed missense mutations, S567L and C712R, which have previously been reported in a patient with bilateral tumors and in a family with low penetrance, respectively. Twelve of the mutations identified here have not been reported to date. These include a novel missense mutation, L662P, which was identified in two bilaterally affected siblings and their mother with unilateral retinoma.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1059-7794
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
434
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online.
pubmed:affiliation
Insttut für Humangenetik, Universitütsklinikum Essen, Germany.
pubmed:publicationType
Journal Article