Searchable abstracts of presentations at key conferences in endocrinology

ea0029p833 | Endocrine tumours and neoplasia | ICEECE2012

Confirmation of pathogenicity of the MEN1 missense mutations by analysis of protein instability and aberrant splicing

Nagamura Y. , Yamazaki M. , Shimazu S. , Sano K. , Tsukada T. , Sakurai A.

Multiple endocrine neoplasia type 1 (MEN1) is a relatively rare autosomal dominantly inherited condition characterized by hyperplastic and neoplastic disorders of endocrine organs such as the parathyroid, anterior pituitary and gastroenteropancreatic endocrine tissues. Germline mutation of the causative gene, MEN1, which localizes to human chromosome 11q13 and encodes the 610 amino-acid nuclear protein menin, can be identified in most affected subjects. MEN1 gene mutation anal...