Title : A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla.

Pub. Date : 2002 Jun

PMID : 12076704






1 Functional Relationships(s)
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1 Mutational screening of the coding region of TP53 revealed an A>T transversion in codon 144 of exon 5 (CAG>CTG, Gln>Leu) in the germline of one of the three affected members, with loss of heterozygosity (LOH) in the tumour tissue. Glutamine tumor protein p53 Homo sapiens