A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations.
第一作者:
Monia,Gennari
第一单位:
Paediatric Endocrinology, S. Orsola Hospital-University of Bologna, Bologna, Italy. monia.gennari2@unibo.it
作者:
主题词
成年人(Adult);癌, 肝细胞(Carcinoma, Hepatocellular);儿童(Child);环AMP依赖性蛋白激酶RⅠα亚单位(Cyclic AMP-Dependent Protein Kinase RIalpha Subunit);DNA突变分析(DNA Mutational Analysis);家庭特征(Family Characteristics);女(雌)性(Female);基因检测(Genetic Testing);人类(Humans);肝肿瘤(Liver Neoplasms);男(雄)性(Male);系谱(Pedigree);表型(Phenotype);点突变(Point Mutation);综合征(Syndrome)
DOI
10.1111/j.1365-2265.2008.03286.x
PMID
18445140
发布时间
2024-06-08
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Clinical endocrinology
751-5页
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