Höppner, W

A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A. [electronic resource] - Human molecular genetics Apr 1997 - 587-90 p. digital

Publication Type: Journal Article

0964-6906

10.1093/hmg/6.4.587 doi


Alleles
Cysteine--chemistry
Drosophila Proteins
Electrophoresis, Polyacrylamide Gel
Exons--genetics
Female
Humans
Hypercalcemia--genetics
Hyperplasia
Male
Multiple Endocrine Neoplasia Type 2a--genetics
Mutation
Parathyroid Glands--pathology
Pedigree
Phenotype
Polymerase Chain Reaction
Proto-Oncogene Mas
Proto-Oncogene Proteins--chemistry
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases--chemistry
Repetitive Sequences, Nucleic Acid--genetics
Sequence Analysis