title: A new germline mutation, R600Q, within the coding region of RET proto-oncogene: a rare polymorphism or a MEN 2 causing mutation?
authors.affiliation: Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain.
authors.forename: M E
authors.initials: ME
authors.lastname: Sáez
authors.forename: A
authors.initials: A
authors.lastname: Ruiz
authors.forename: A
authors.initials: A
authors.lastname: Cebrián
authors.forename: F
authors.initials: F
authors.lastname: Morales
authors.forename: M
authors.initials: M
authors.lastname: Robledo
authors.forename: G
authors.initials: G
authors.lastname: Antiñolo
authors.forename: S
authors.initials: S
authors.lastname: Borrego
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D018276:Carcinoma, Medullary / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10; D029721:Drosophila Proteins; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila