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Mutation analysis and genetic service: the construction and use of national confidential databases of mutations and pedigrees.

Genetic testing - 1 Jan 2000

Green P M, Waseem N H, Bagnall R D, Giannelli F

Abstract excerpt

The development of rapid mutation screening procedures allows the detection of mutations in large populations. This is particularly useful for inherited diseases of high mutational heterogeneity, such as haemophilia A and B, because the analysis of the very many different natural mutants clearly defines the features that are important to the function of the relevant gene and gene product. Furthermore, the...

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PMID: 10464644
DOI: 10.1089/gte.1997.1.181

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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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