Search for dissertations about: "Andrea Villablanca"

Found 1 swedish dissertation containing the words Andrea Villablanca.

2. 1. Genetic background of familial primary hyperparathyroidism

   Author : Andrea Villablanca; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Parathyroid; primary hyperparathyroidism; MEN 1; HPT-JT; FIHP; Menin; Parafibromin; tumour suppressor gene; loss of heterozygosity; mutation analysis; immunohistochemistry;

   Abstract : In this thesis the aim has been to identify and characterise gene(s) involved in familial primary hyperparathyroidism (PHPT). In multiple endocrine neoplasia type 1 (MEN 1), the hyperparathyroidism-jaw tumour syndrome (HPT-JT) and familial isolated hyperparathyroidism (FIHP), in which primary hyperparathyroidism is seen in most or almost all gene carriers. READ MORE