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Article

Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families.

Biochimica et biophysica acta - 24 May 1996

Cenarro A, Jensen H K, Casao E, Civeira F, Gonzàlez-Bonillo J, Pocoví M, Gregersen N

Abstract excerpt

DNA from 30 unrelated Spanish patients with familial hypercholesterolemia (FH) was studied by single-strand conformation polymorphisms (SSCP)/heteroduplex analysis for mutation detection in exon 13 of low density lipoprotein (LDL) receptor gene. Two patients were found to have an abnormal pattern by heteroduplex analysis, and direct sequencing revealed a C to G substitution at nucleotide position 1965, that...

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PMID: 8634338
DOI: 10.1016/0925-4439(96)00006-3

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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