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Article

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.

Human molecular genetics - 1 Mar 1994

Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C

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PMID: 8012365
DOI: 10.1093/hmg/3.3.515

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Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.PMID 8012365Read ↗

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1ASemantic proximity Read ↗

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Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.Semantic proximity Read ↗

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient.Semantic proximity Read ↗

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Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene.Semantic proximity Read ↗

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.Semantic proximity Read ↗

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.Semantic proximity Read ↗

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