Zhao, Zi-Ye

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