ea0029oc9.4 | Endocrine Tumours & Translation | ICEECE2012
Canaff L.
, Hendy G.
Menin is the product of the multiple endocrine neoplasia type 1 (MEN1) gene which when inactivated causes an autosomal dominant disorder characterized by tumors of the parathyroids, endocrine pancreas and anterior pituitary.We identified an MEN1 splice-site mutation leading to a menin Δ(184218) mutant having an in-frame deletion of 35 amino acids, but otherwise of wild-type sequence. The transfected mutant was well expressed, and like wild-typ...