Article
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.
The Journal of clinical endocrinology and metabolism - 1 Jun 2002
Turner Jeremy J O, Leotlela Poloko D, Pannett Anna A J, Forbes Simon A, Bassett J H Duncan, Harding Brian, Christie Paul T, Bowen-Jones David, Ellard Sian, Hattersley Andrew, Jackson Charles E, Pope Richard, Quarrell Oliver W, Trembath Richard, Thakker Rajesh V
Abstract excerpt
MEN1 is an autosomal dominant disorder characterized by parathyroid, pituitary, and pancreatic tumors. The MEN1 gene is located on chromosome 11q13 and encodes a 610-amino acid protein. MEN1 mutations are of diverse types and are scattered throughout the coding region, such that almost every MEN1 family will have its individual mutation. To further characterize such mutations we ascertained 34 unrelated MEN1...
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