Application of an intracellular stability test of a novel missense menin mutant to the diagnosis of multiple endocrine neoplasia type 1
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概要
- 論文の詳細を見る
- 2012-12-01
著者
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Sakurai Akihiro
Division Of Clinical And Molecular Genetics Shinshu University Hospital
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Shimazu Satoko
Division Of Endocrinology And Metabolism Clinical Research Institute National Hospital Organization
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TSUKADA Toshihiko
Division of Familial Cancer Research, National Cancer Center Research Institute
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Tsukada Toshihiko
Division Of Familial Cancer Research National Cancer Center Research Institute
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Yamazaki Masanori
Division Of Diabetes Endocrinology And Metabolism Department Of Internal Medicine Shinshu University School Of Medicine
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Nagamura Yuko
Division Of Familial Cancer Research National Cancer Center Research Institute
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SHIMAZU Satoko
Division of Familial Cancer Research, National Cancer Center Research Institute
関連論文
- MEN1 gene and its mutations : Basic and clinical implications
- JunD-Menin Interaction Regulates c-Jun-mediated AP-1 Transactivation
- Current Status of Clinical Care for Familial Endocrine Tumor Syndromes in Japan
- Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan
- Comprehensive genetics clinic for familial tumors : proposal for a suitable system in Japan
- Lipid Profiles in the Untreated Patients with Hashimoto Thyroiditis and the Effects of Thyroxine Treatment on Subclinical Hypothyroidism with Hashimoto Thyroiditis
- Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms
- A novel splice site mutation of the MEN1 gene identified in a patient with primary hyperparathyroidism
- Delay in the diagnosis of multiple endocrine neoplasia type 1 : typical symptoms are frequently overlooked
- Clinical features of insulinoma in patients with multiple endocrine neoplasia type 1 : analysis of the database of the MEN Consortium of Japan
- Mediastinal Seminoma in a Patient with Multiple Endocrine Neoplasia Type 1
- Facial Angiofibroma as an Initial Manifestation in Multiple Endocrine Neoplasia Type 1
- Application of an intracellular stability test of a novel missense menin mutant to the diagnosis of multiple endocrine neoplasia type 1