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Article

[The phenotypes of a hypercholesterolemia family with low density lipoprotein receptor exon 13 A606T mutation].

Zhonghua nei ke za zhi - 1 Sept 2012

Cheng Xin-yao, Cheng Xiao-huan, Zhang Yin, Zheng Fang, Wang Ai-li

Abstract excerpt

OBJECTIVE: To investigate the clinical phenotypes of familial hypercholesterolemia (FH) caused by exon 13 A606T mutation in low density lipoprotein receptor. METHODS: Clinical data of the suffered family were collected and analyzed, as well as measurement of perivascular intima-medial thickness and follow-mediated-dilation function by ultrasonography. RESULTS: There were totally 11 sufferers including 4 males and...

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PMID: 23158915

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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