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| pubmed-article:9403059 | lifeskim:mentions | umls-concept:C0205147 | lld:lifeskim |
| pubmed-article:9403059 | lifeskim:mentions | umls-concept:C0205341 | lld:lifeskim |
| pubmed-article:9403059 | lifeskim:mentions | umls-concept:C0332597 | lld:lifeskim |
| pubmed-article:9403059 | lifeskim:mentions | umls-concept:C1413629 | lld:lifeskim |
| pubmed-article:9403059 | lifeskim:mentions | umls-concept:C0079429 | lld:lifeskim |
| pubmed-article:9403059 | lifeskim:mentions | umls-concept:C1704973 | lld:lifeskim |
| pubmed-article:9403059 | lifeskim:mentions | umls-concept:C1549781 | lld:lifeskim |
| pubmed-article:9403059 | lifeskim:mentions | umls-concept:C1521805 | lld:lifeskim |
| pubmed-article:9403059 | lifeskim:mentions | umls-concept:C1706942 | lld:lifeskim |
| pubmed-article:9403059 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:9403059 | pubmed:dateCreated | 1998-1-13 | lld:pubmed |
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| pubmed-article:9403059 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9403059 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9403059 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9403059 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9403059 | pubmed:abstractText | Misalignment between the two elements of the CMT1A-REP binary repeat on chromosome 17p11.2-p12 causes two inherited peripheral neuropathies, Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies. This binary repeat contains repetitive DNA elements that include LINES, SINES, medium reiteration frequency repeats, and a transposon-like element. The COX10 gene has been mapped 10 kb centromeric to the distal CMT1A-REP element, and a portion of this gene is present in both the proximal and the distal CMT1A-REP elements. We report the isolation and characterization of a novel cDNA (C170RF1), which maps centromeric to and partially within the proximal CMT1A-REP element. Part of C170RF1 is transcribed from the opposite strand of the COX10 partial gene duplication present in the proximal CMT1A-REP element. This finding shows that C170RF1 and COX10 are being transcribed from opposite strands of identical DNA sequences that are separated by 1.5 Mb in the genome. RT-PCR analysis showed the proximal transcript was expressed in skeletal muscle. Sequence analysis identified an open reading frame encoding a 199-amino-acid protein. Zoo blot analysis showed that the transcript is conserved in nonhuman primates. The presence of a binary repeat contributes to the instability of this region of chromosome 17, yet two CMT1A-REP elements are present in the chimpanzee and all human populations. The presence of expressed sequences in both elements of the CMT1A-REP binary repeat could explain the maintenance of this repeat in humans. | lld:pubmed |
| pubmed-article:9403059 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9403059 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9403059 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9403059 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:9403059 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9403059 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9403059 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:9403059 | pubmed:issn | 0888-7543 | lld:pubmed |
| pubmed-article:9403059 | pubmed:author | pubmed-author:NicholsonG... | lld:pubmed |
| pubmed-article:9403059 | pubmed:author | pubmed-author:KennersonM... | lld:pubmed |
| pubmed-article:9403059 | pubmed:author | pubmed-author:YangJ GJG | lld:pubmed |
| pubmed-article:9403059 | pubmed:author | pubmed-author:DeKroonR MRM | lld:pubmed |
| pubmed-article:9403059 | pubmed:author | pubmed-author:NassifN TNT | lld:pubmed |
| pubmed-article:9403059 | pubmed:author | pubmed-author:DawkinsJ LJL | lld:pubmed |
| pubmed-article:9403059 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9403059 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:9403059 | pubmed:volume | 46 | lld:pubmed |
| pubmed-article:9403059 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9403059 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9403059 | pubmed:pagination | 61-9 | lld:pubmed |
| pubmed-article:9403059 | pubmed:dateRevised | 2011-10-17 | lld:pubmed |
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| pubmed-article:9403059 | pubmed:year | 1997 | lld:pubmed |
| pubmed-article:9403059 | pubmed:articleTitle | The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene. | lld:pubmed |
| pubmed-article:9403059 | pubmed:affiliation | Molecular Medicine Laboratory, University of Sydney, Concord Hospital, New South Wales, Australia. marinak@med.usyd.edu.au | lld:pubmed |
| pubmed-article:9403059 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9403059 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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