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A novel PRKAR1A gene mutation associated with primary pigmented nodular adrenocortical disease.

作者信息

Ran Hui, Ma Xiaokun, Wang Qingzhu, Xie Ziyi, Qin Guijun

机构信息

Department of Endocrinology Department of Nuclear Medicine The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

出版信息

Am J Med Sci. 2014 Aug;348(2):177-8. doi: 10.1097/MAJ.0000000000000296.

DOI:10.1097/MAJ.0000000000000296
PMID:24978147
Abstract
摘要

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Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.家族性孤立性原发性色素性结节性肾上腺皮质病与一种新的低外显率 PRKAR1A 基因突变剪接位点相关。
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Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD).原发性色素沉着性结节性肾上腺皮质疾病(PPNAD)中体细胞β-连环蛋白突变的检测
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Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families.M1V PRKAR1A 突变与两个大家族中原发性色素性结节性肾上腺皮质病的关联。
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