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Article

A rapid method for detecting mutations of the human LDL receptor gene by complete cDNA sequencing.

Molecular and cellular probes - 1 Feb 2003

Liguori Rosario, Argiriou Anagnostis, Simone Vincenzo De

Abstract excerpt

We have developed and clinically tested a rapid and largely automated procedure to detect mutations in the coding region of a gene of interest. Our method relies on the automated sequencing of the complete cDNA, followed by an advanced mutation search-and-verification routine using an integrated set of computer analysis tools. We have applied our automated procedure to the diagnosis of familial...

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Identifiers

PMID: 12628589
DOI: 10.1016/s0890-8508(02)00113-5

Genes

LDLR

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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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