Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid.
第一作者:
C,Casali
第一单位:
Istituto di Clinica delle Malattie Nervose e Mentali, Università di Roma-La Sapienza, Rome, Italy. Casali@uniroma1.it
作者:
主题词
青少年(Adolescent);成年人(Adult);老年人(Aged);老年人, 80以上(Aged, 80 and over);心肌病, 肥厚性(Cardiomyopathy, Hypertrophic);儿童(Child);儿童, 学龄前(Child, Preschool);DNA突变分析(DNA Mutational Analysis);DNA, 线粒体(DNA, Mitochondrial);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);心力衰竭(Heart Failure);人类(Humans);男(雄)性(Male);中年人(Middle Aged);系谱(Pedigree);表型(Phenotype);点突变(Point Mutation);多态性, 限制性片段长度(Polymorphism, Restriction Fragment Length);妊娠(Pregnancy);RNA, 转移, 异亮氨酸(RNA, Transfer, Ile);性染色体畸变(Sex Chromosome Aberrations);X染色体(X Chromosome)
DOI
10.1016/s0735-1097(99)00079-0
PMID
10334428
发布时间
2022-01-29
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