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Article

Positionally cloned human disease genes: patterns of evolutionary conservation and functional motifs.

Proceedings of the National Academy of Sciences of the United States of America - 27 May 1997

Mushegian A R, Bassett D E, Boguski M S, Bork P, Koonin E V

Abstract excerpt

Positional cloning has already produced the sequences of more than 70 human genes associated with specific diseases. In addition to their medical importance, these genes are of interest as a set of human genes isolated solely on the basis of the phenotypic effect of the respective mutations. We analyzed the protein sequences encoded by the positionally cloned disease genes using an iterative strategy combining...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9159160
DOI: 10.1073/pnas.94.11.5831
PMCID: PMC20866

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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