関連する実験動画

Updated: Sep 9, 2025

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

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主要な双面マクロンモジュール腎上腺増殖および結腸腺腫を有する兄弟における新規ARMC5の生殖系変異

Takahisa Handa1,2, Hiraku Kameda3, Yuki Oe1,3,4

  • 1Department of Internal Medicine, Kushiro Red Cross Hospital, Kushiro 085-8512, Japan.

JCEM case reports
|September 2, 2025
PubMed
まとめ

主要な双方のマクロノジュラ性腎上腺増殖 (PBMAH) と軽度の自律的なコルチゾール分泌 (MACS) を有する2人の兄弟は,新しいARMC5遺伝子変異体であることが判明しました. この遺伝子変異は,大腸直腸腫瘍と PBMAH を関連付けることもあり,大腸内視鏡検査の必要性を示唆しています.

キーワード:
5 (ARMC5) を含有するアーマディロ・リピート大腸腺腫軽度の自律的なコルチゾール分泌主要な双方のマクロノドゥーラ副腎増殖

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