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Article

Detection of a known mutation M412T in the LDL receptor in a Chinese Thai FH family.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2006

Pongrapeeporn Klai-Upsorn S, Nuinoon Manit, Thepsuriyanont Pikun, Kasemsuk Bantita, Charoensuk Patthamawadee, Chantawee Ruechakorn, Wongmanee Uchanee, Nuchpramool Wilairat

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant hypercholesterolemia caused by mutation in the LDL receptor gene. M412T mutation of the LDL receptor gene was previously observed in a single female patient diagnosed as having primary hypercholesterolemia. However, the analysis was incomplete and there was no confirmation of the M412T as the FH-causing mutation. We identified a mutation in...

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Identifiers

PMID: 16406299
DOI: 10.1016/j.cca.2005.08.024

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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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