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Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김윤정 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 이상국 | - |
dc.contributor.author | 조선미 | - |
dc.date.accessioned | 2015-12-28T11:13:47Z | - |
dc.date.available | 2015-12-28T11:13:47Z | - |
dc.date.issued | 2014 | - |
dc.identifier.issn | 2090-6552 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/138981 | - |
dc.description.abstract | Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal neuropathy that is commonly caused by a reciprocal 1.5 Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 (PMP22) gene. Other patients with similar phenotypes have been shown to harbor point mutations or small deletions, although there is some clinical variation across these patients. In this report, we describe a case of HNPP with copy number changes in exon or promoter regions of PMP22. Multiplex ligation-dependent probe analysis revealed an exon 1b deletion in the patient, who had been diagnosed with HNPP in the first decade of life using molecular analysis. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.relation.isPartOf | Case Reports in Genetics | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Sun-Mi Cho | - |
dc.contributor.googleauthor | Bo Young Hong | - |
dc.contributor.googleauthor | Yoonjung Kim | - |
dc.contributor.googleauthor | Sang Guk Lee | - |
dc.contributor.googleauthor | Jin-Young Yang | - |
dc.contributor.googleauthor | Juwon Kim | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.identifier.doi | 10.1155/2014/946010 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00793 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A02810 | - |
dc.contributor.localId | A03827 | - |
dc.relation.journalcode | J00467 | - |
dc.identifier.pmid | 25506001 | - |
dc.contributor.alternativeName | Kim, Yoon Jung | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Lee, Sang Guk | - |
dc.contributor.alternativeName | Cho, Sun Mi | - |
dc.contributor.affiliatedAuthor | Kim, Yoon Jung | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Lee, Sang Guk | - |
dc.contributor.affiliatedAuthor | Cho, Sun Mi | - |
dc.citation.volume | 2014 | - |
dc.citation.startPage | 946010 | - |
dc.identifier.bibliographicCitation | Case Reports in Genetics, Vol.2014 : 946010, 2014 | - |
dc.identifier.rimsid | 51216 | - |
dc.type.rims | ART | - |
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