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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Pubblicato in:J Med Genet
Autori principali: Raeymaekers, P, Timmerman, V, Nelis, E, Van Hul, W, De Jonghe, P, Martin, J J, Van Broeckhoven, C
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 1992
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Research Article
Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015812/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1552545/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.1.5
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