Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient. [electronic resource]
- BMC medical genetics 11 2017
- 130 p. digital
Publication Type: Case Reports; Journal Article
1471-2350
10.1186/s12881-017-0471-y doi
AMP-Activated Protein Kinase Kinases Amino Acid Sequence Asian People--genetics China Exons Frameshift Mutation Germ-Line Mutation Humans Male Middle Aged Neoplasms--diagnosis Pedigree Peutz-Jeghers Syndrome--diagnosis Protein Conformation Protein Serine-Threonine Kinases--genetics Risk Factors Sequence Analysis, DNA