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Article

Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.

Clinical genetics - 1 May 1999

Chae J J, Kim S H, Kim U K, Han K H, Kim H S, Kastner D L, Namkoong Y, Park Y B, Lee C C

Abstract excerpt

The low-density lipoprotein (LDL) receptor gene from 80 unrelated Korean patients with familial hypercholesterolemia (FH) was analyzed to screen for small structural rearrangements that could not be detected by Southern blot hybridization. Three different small deletions were detected in exon 11 of 3 FH patients and were characterized by DNA sequence analysis. Of them two mutations are in-frame 36-bp (FH 2) and...

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PMID: 10422802
DOI: 10.1034/j.1399-0004.1999.550505.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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