| pubmed-article:1303231 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1303231 | lifeskim:mentions | umls-concept:C0007959 | lld:lifeskim |
| pubmed-article:1303231 | lifeskim:mentions | umls-concept:C0026969 | lld:lifeskim |
| pubmed-article:1303231 | lifeskim:mentions | umls-concept:C0008633 | lld:lifeskim |
| pubmed-article:1303231 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:1303231 | lifeskim:mentions | umls-concept:C1520746 | lld:lifeskim |
| pubmed-article:1303231 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:1303231 | lifeskim:mentions | umls-concept:C0332597 | lld:lifeskim |
| pubmed-article:1303231 | lifeskim:mentions | umls-concept:C0205100 | lld:lifeskim |
| pubmed-article:1303231 | lifeskim:mentions | umls-concept:C0024779 | lld:lifeskim |
| pubmed-article:1303231 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:1303231 | pubmed:dateCreated | 1993-6-23 | lld:pubmed |
| pubmed-article:1303231 | pubmed:abstractText | Charcot-Marie-Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2. A related disorder in the mouse, trembler (Tr), maps to mouse chromosome 11 which has syntenic homology to human chromosome 17p. Recently, the peripheral myelin protein-22 (pmp-22) gene was identified as the likely Tr locus. We have constructed a partial yeast artificial chromosome contig spanning the CMT1A gene region and mapped the PMP-22 gene to the duplicated region. These observations further implicate PMP-22 as a candidate gene for CMT1A, and suggest that over-expression of this gene may be one mechanism that produces the CMT1A phenotype. | lld:pubmed |
| pubmed-article:1303231 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1303231 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1303231 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1303231 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:1303231 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1303231 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:1303231 | pubmed:issn | 1061-4036 | lld:pubmed |
| pubmed-article:1303231 | pubmed:author | pubmed-author:WhiteRR | lld:pubmed |
| pubmed-article:1303231 | pubmed:author | pubmed-author:SmithBB | lld:pubmed |
| pubmed-article:1303231 | pubmed:author | pubmed-author:RobertsonMM | lld:pubmed |
| pubmed-article:1303231 | pubmed:author | pubmed-author:BirdT DTD | lld:pubmed |
| pubmed-article:1303231 | pubmed:author | pubmed-author:MüllerH WHW | lld:pubmed |
| pubmed-article:1303231 | pubmed:author | pubmed-author:HanemannC OCO | lld:pubmed |
| pubmed-article:1303231 | pubmed:author | pubmed-author:BallardLL | lld:pubmed |
| pubmed-article:1303231 | pubmed:author | pubmed-author:MatsunamiNN | lld:pubmed |
| pubmed-article:1303231 | pubmed:author | pubmed-author:AlbertsenHH | lld:pubmed |
| pubmed-article:1303231 | pubmed:author | pubmed-author:LenschM WMW | lld:pubmed |
| pubmed-article:1303231 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1303231 | pubmed:volume | 1 | lld:pubmed |
| pubmed-article:1303231 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1303231 | pubmed:authorsComplete | N | lld:pubmed |
| pubmed-article:1303231 | pubmed:pagination | 176-9 | lld:pubmed |
| pubmed-article:1303231 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:1303231 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1303231 | pubmed:articleTitle | Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. | lld:pubmed |
| pubmed-article:1303231 | pubmed:affiliation | Howard Hughes Medical Institute, University of Utah Medical Center, Salt Lake City 84112. | lld:pubmed |
| pubmed-article:1303231 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1303231 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:1303231 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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