Article
Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.
Human molecular genetics - 1 Jan 1999
Ylikorkala A, Avizienyte E, Tomlinson I P, Tiainen M, Roth S, Loukola A, Hemminki A, Johansson M, Sistonen P, Markie D, Neale K, Phillips R, Zauber P, Twama T, Sampson J, Järvinen H, Mäkelä T P, Aaltonen L A
Abstract excerpt
Germline mutations in LKB1 have been reported to underlie familial Peutz-Jeghers syndrome (PJS) with intestinal hamartomatous polyps and an elevated risk of various neoplasms. To investigate the prevalence of LKB1 germline mutations in PJS more generally, we studied samples from 33 unrelated PJS...
Topics
- AMP-Activated Protein Kinase Kinases
- Alleles
- Base Sequence
- DNA
- DNA Primers
- Female
- Germ-Line Mutation
- Humans
- Male
- Peutz-Jeghers Syndrome
- Point Mutation
- Protein Serine-Threonine Kinases
- RNA, Messenger
- Sequence Deletion