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Article

How to evaluate phenotype-genotype relationship in rare coagulation haemorrhagic disorders: examples from FVII deficiency.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Oct 2004

Bernardi F, Marchetti G, Dolce A, Mariani G

Abstract excerpt

The study of the molecular pathogenesis of several single-gene disorders, such as coagulation-factor deficiencies, has revealed the variability of phenotypic expression, even of the same mutations in single genes. These studies underline the complexity of research dealing with the definition of the molecular bases of disorders. Sequence variations provide only the starting point to define pathological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15479394
DOI: 10.1111/j.1365-2516.2004.00989.x

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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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