Novel human pathological mutations. Gene symbol: PTEN. Disease: PTEN Hamartoma Tumour Syndrome.
Ellison
Jay
J
Medical Genetics, Mayo Clinic, 55905, Rochester, USA. ellison.jay@mayo.edu
Driscoll
David
D
D003062:Codon / Q000235:genetics; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D051059:PTEN Phosphohydrolase / Q000235:genetics*
D003062:Codon; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human