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Article

Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Dec 2005

Lee Ni-Chung, Hwang Betau, Chen Chia-Hsiang, Niu Dau-Ming

Abstract excerpt

Marfan syndrome is an autosomal dominant fibrillinopathy caused by mutations of the fibrillin-1 (FBN1) gene. Although linkage analysis is often required to ascertain the disease status in family members, recombination is a problem. We analyzed 6 families including 18 patients using 4 intragenic microsatellite markers, located in intron 1, 5, 28, and 43, respectively, of the FBN1 gene. Haplotypes in all family...

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Identifiers

PMID: 16607458

Genes

FBN1

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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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