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Article

DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

Cell - 26 Jul 1991

Lupski J R, de Oca-Luna R M, Slaugenhaupt S, Pentao L, Guzzetta V, Trask B J, Saucedo-Cardenas O, Barker D F, Killian J M, Garcia C A, Chakravarti A, Patel P I

Abstract excerpt

Charcot-Marie-tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA markers within this interval revealed a duplication that is completely linked and associated with CMT1A. The duplication was demonstrated in affected individuals by the presence of three alleles at a highly polymorphic locus, by dosage differences at RFLP alleles, and by two-color...

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PMID: 1677316
DOI: 10.1016/0092-8674(91)90613-4

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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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