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Article

Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes.

Human mutation - 1 Jan 1998

Karttunen L, Ukkonen T, Kainulainen K, Syvänen A C, Peltonen L

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Topics

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Share to Codon, Terminator
Share to Fibrillin-1
Share to Fibrillins
Share to Fibroblasts

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Marfan Syndrome

Share to Microfilament Proteins

Share to Point Mutation

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Source

Identifiers

PMID: 9452033
DOI: 10.1002/humu.1380110112

Provenance

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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