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The CMT2D Locus: Refined Genetic Position and Construction of a Bacterial Clone-Based Physical Map

Charcot-Marie-Tooth (CMT) disease is a progressive neuropathy of the peripheral nervous system, typically characterized by muscle weakness of the distal limbs. CMT is noted for its genetic heterogeneity, with four distinct loci already identified for the axonal form of the disease (CMT2). In 1996, l...

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Vydáno v:Genome Res
Hlavní autoři: Ellsworth, Rachel E., Ionasescu, Victor, Searby, Charles, Sheffield, Val C., Braden, Valerie V., Kucaba, Tamara A., McPherson, John D., Marra, Marco A., Green, Eric D.
Médium: Artigo
Jazyk:Inglês
Vydáno: Cold Spring Harbor Laboratory Press 1999
Témata:
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC310773/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10400924/
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