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Article

Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1.

Human mutation - 1 Jan 1999

Yuan B, Thomas J P, von Kodolitsch Y, Pyeritz R E

Abstract excerpt

Analysis of large genes for mutations of clinical relevance is complicated by intragenic heterogeneity, sensitivity, and cost of the methods available, and in the case of many conditions, specificity of the genetic alterations detected. We examined the FBN1 gene for mutations in people who had Marfan syndrome using three methods: single-chain polymorphism analysis (SSCP) with heteroduplex (HA) analysis,...

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Identifiers

PMID: 10533071
DOI: 10.1002/(SICI)1098-1004(199911)14:5<440::AID-HUMU11>3.0.CO;2-P

Genes

FBN1

Provenance

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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