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Updated: Feb 7, 2026

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挑战Mahvash病的衰退性范式:来自新型拼接部位变异的异质合体表型

Francisco Martínez Bugallo1, Gema García de1, Carol Prieto-Morín1

  • 1University Hospital Nuestra Señora de Candelaria Department of Clinical Analysis Laboratory Human Genetic Unit Santa Cruz de Tenerife Spain Human Genetic Unit, Department of Clinical Analysis Laboratory, University Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.

Archives of endocrinology and metabolism
|February 6, 2026
PubMed
概括

马哈瓦什病是由GCGR基因变异引起的,通常存在于同卵性个体中. 这项研究显示,异合体携带者可能会表现出微妙的胰腺变化,这表明疾病的范围更广.

关键词:
葡萄糖受体的受体是什么对疾病的遗传倾向.神经内分泌瘤的神经内分泌瘤胰腺瘤的发生.拼接部位突变突变的发生.

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