2005•NeurogeneticsOpen access

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect

Patrick Rump, H.H. Lemmink, C. C. Verschuuren-Bemelmans, P.M. Grootscholten, Johanna M. Fock, S. J. Hayflick, S. K. Westaway, Yvonne J. Vos, A. J. van Essen

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Key concepts: Genetics, Founder effect, Biology, Haplotype, Mutation, Nonsense mutation, Gene, Exon

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A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect — Research Paper | ScholarLens