Title : A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome.

Pub. Date : 2018

PMID : 29416929






1 Functional Relationships(s)
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1 By performing next-generation sequencing on the patient and subsequent verification by Sanger sequencing among other family members, a new germ-line P53 replication error, a trinucleotide repeat mutation in the coding region, was identified in two generations of this Li-Fraumeni family. trinucleotide tumor protein p53 Homo sapiens