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Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.

Human mutation - 1 Jul 2000

Youil R, Toner T J, Bull E, Bailey A L, Earl C D, Dietz H C, Montgomery R A

Abstract excerpt

The Enzymatic Mutation Detection (EMDtrade mark) method is a streamlined and improved version of the original Enzymatic Cleavage of Mismatch (EMC) method. EMD is a fully homogeneous, rapid four step procedure that allows for detection and localization of mismatched or unmatched nucleotides within heteroduplex DNA. To test the utility of EMD for use in the screening of large and complex genes, the fibrillin 1...

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Identifiers

PMID: 10874320
DOI: 10.1002/1098-1004(200007)16:1<92::AID-HUMU24>3.0.CO;2-1

Genes

EMD
FBN1

Variants

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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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