利用成纤维细胞培养诊断家族性高胆固醇血症并进行基因分型。 - Suppr

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超能文献

Use of fibroblast culture to diagnose and genotype familial hypercholesterolaemia.

作者信息

Spengel F A, Harders-Spengel K M, Keller C F, Wieczorek A, Wolfram G, Zöllner N

出版信息

Ann Nutr Metab. 1982;26(4):240-7. doi: 10.1159/000176569.

DOI:10.1159/000176569

PMID:7137946

Abstract

摘要

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Use of fibroblast culture to diagnose and genotype familial hypercholesterolaemia.

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引用本文的文献

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Hyperlipidaemia and premature coronary artery disease associated with sex-change in a female.

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Atherosclerosis of the carotid arteries documented by duplex scan as a predictor of coronary artery disease in familial hyperlipidemias.

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Atherosclerosis of the carotid arteries in young patients with familial hypercholesterolemia.

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Identification of a silent point mutation in the LDL-receptor gene by direct DNA sequencing.

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Identification of a 76-year-old patient with compound heterozygous familial hypercholesterolemia by haplotype analysis of the LDL receptor gene.

Klin Wochenschr. 1991 Nov 15;69(18):842-6. doi: 10.1007/BF01649457.

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