A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism.

@article{Honda2000ANM,
  title={A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism.},
  author={Mariko Honda and Toshihiko Tsukada and Haruki Tanaka and Kyoko Maruyama and Keizo Yamaguchi and Takao Obara and Teizo Yamaji and Masahiko Ishibashi},
  journal={European journal of endocrinology},
  year={2000},
  volume={142 2},
  pages={138-43}
}
OBJECTIVE To determine whether familial isolated hyperparathyroidism (FIHP) is a variant of multiple endocrine neoplasia type 1 (MEN1) we analyzed the MEN1 gene in such a kindred. DESIGN AND METHODS The study included the 70-year-old proband and nine relatives. Blood was drawn for biochemical evaluation and germline mutation analysis by direct sequencing of the MEN1 gene amplified by PCR. A hyperplastic parathyroid gland obtained from a family member served for a loss of heterozygosity (LOH… CONTINUE READING

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