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Article

Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.

Human mutation - 1 Jan 1996

Warner L E, Roa B B, Lupski J R

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Source

Identifiers

PMID: 8956042
DOI: 10.1002/(SICI)1098-1004(1996)8:4<362::AID-HUMU10>3.0.CO;2-0

Genes

PMP22

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.PMID 8956042Read ↗

Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype.Semantic proximity Read ↗

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.Semantic proximity Read ↗

Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene.Semantic proximity Read ↗

Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the futureSemantic proximity Read ↗

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.Semantic proximity Read ↗

DNA duplication associated with Charcot-Marie-Tooth disease type 1A.Semantic proximity Read ↗

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.Semantic proximity Read ↗

CMT1A duplication: refining the minimal adult phenotype.Semantic proximity Read ↗

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication.Semantic proximity Read ↗

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.Semantic proximity Read ↗

Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy.Semantic proximity Read ↗

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