Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

We have previously shown a duplication in 17p11.2 with probe pVAW409R3 (D17S122) in 12 families with hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1). In this study we aimed to estimate the size of the duplication using additional polymorphic DNA m...

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Autores principales: Raeymaekers, P, Timmerman, V, Nelis, E, Van Hul, W, De Jonghe, P, Martin, J J, Van Broeckhoven, C
Formato: Artigo
Lenguaje:Inglês
Publicado: 1992
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015812/
https://ncbi.nlm.nih.gov/pubmed/1552545
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