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Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

An ∼4-Mb genomic segment on chromosome 17p11.2, commonly deleted in patients with the Smith-Magenis syndrome (SMS) and duplicated in patients with dup(17)(p11.2p11.2) syndrome, is flanked by large, complex low-copy repeats (LCRs), termed proximal and distal SMS-REP. A third copy, the middle SMS-REP,...

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Bibliografiska uppgifter
Huvudupphovsmän: Park, Sung-Sup, Stankiewicz, Paweł, Bi, Weimin, Shaw, Christine, Lehoczky, Jessica, Dewar, Ken, Birren, Bruce, Lupski, James R.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Cold Spring Harbor Laboratory Press 2002
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC186597/
https://ncbi.nlm.nih.gov/pubmed/11997339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.82802
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