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The 1.4-Mb CMT1A Duplication/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes

Duplication and deletion of the 1.4-Mb region in 17p12 that is delimited by two 24-kb low copy number repeats (CMT1A–REPs) represent frequent genomic rearrangements resulting in two common inherited peripheral neuropathies, Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with l...

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Udgivet i:Genome Res
Principais autores: Inoue, Ken, Dewar, Ken, Katsanis, Nicholas, Reiter, Lawrence T., Lander, Eric S., Devon, Keri L., Wyman, Dudley W., Lupski, James R., Birren, Bruce
Format: Artigo
Sprog:Inglês
Udgivet: Cold Spring Harbor Laboratory Press 2001
Fag:
Letter
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC311111/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11381029/
https://ncbi.nlm.nih.govhttps://doi.org/10.1101/gr.180401
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