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[Familial homozygous hypercholesterolemia due to the c2271delT mutation in the LDL receptor gene, detected exclusively in Mexicans].

Gaceta medica de Mexico - 1 Jan 2000

Martínez Lizbeth, Ordóñez Sánchez María Luisa, Letona Rosario, Olvera Sumano Verónica, Guerra Mariano Miguel, Tusié-Luna María Teresa, Aguilar-Salinas Carlos Alberto

Abstract excerpt

We present the case of an 18-years old women with homozygous familial hypercholesterolemia in which a LDL receptor mutation (c2271delT) was found. This mutation has been informed only in Mexicans. The patient was born in Oaxaca, Mexico. She has atypical location of tendinous and tuberous xanthomata, coronary atherosclerosis and multiple valve involvement. The response to ezetimibe/high dose statin therapy was...

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PMID: 22089669

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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