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Novel Mutation in PRKAR1A in Carney Complex
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| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Park, Ko Un | - |
| dc.contributor.author | Kim, Hyun-Sook | - |
| dc.contributor.author | Lee, Seung Kwan | - |
| dc.contributor.author | Jung, Woon-Won | - |
| dc.contributor.author | Park, Yong-Koo | - |
| dc.date.accessioned | 2021-09-06T12:47:14Z | - |
| dc.date.available | 2021-09-06T12:47:14Z | - |
| dc.date.created | 2021-06-14 | - |
| dc.date.issued | 2012-12 | - |
| dc.identifier.issn | 1738-1843 | - |
| dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/106876 | - |
| dc.description.abstract | A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase type 11A (PDE11A) gene. This is the first case wherein extensive genetic studies were performed in a patient with Carney complex in Korea. | - |
| dc.language | English | - |
| dc.language.iso | en | - |
| dc.publisher | KOREAN SOCIETY PATHOLOGISTS | - |
| dc.subject | PROTEIN-KINASE-A | - |
| dc.subject | ENDOCRINE OVERACTIVITY | - |
| dc.subject | SPOTTY PIGMENTATION | - |
| dc.subject | REGULATORY SUBUNIT | - |
| dc.subject | GENE | - |
| dc.subject | MYXOMAS | - |
| dc.subject | TUMORS | - |
| dc.subject | PDE11A | - |
| dc.title | Novel Mutation in PRKAR1A in Carney Complex | - |
| dc.type | Article | - |
| dc.contributor.affiliatedAuthor | Lee, Seung Kwan | - |
| dc.identifier.doi | 10.4132/KoreanJPathol.2012.46.6.595 | - |
| dc.identifier.scopusid | 2-s2.0-84874075488 | - |
| dc.identifier.wosid | 000313313800013 | - |
| dc.identifier.bibliographicCitation | KOREAN JOURNAL OF PATHOLOGY, v.46, no.6, pp.595 - 600 | - |
| dc.relation.isPartOf | KOREAN JOURNAL OF PATHOLOGY | - |
| dc.citation.title | KOREAN JOURNAL OF PATHOLOGY | - |
| dc.citation.volume | 46 | - |
| dc.citation.number | 6 | - |
| dc.citation.startPage | 595 | - |
| dc.citation.endPage | 600 | - |
| dc.type.rims | ART | - |
| dc.type.docType | Article | - |
| dc.identifier.kciid | ART001723236 | - |
| dc.description.journalClass | 1 | - |
| dc.description.journalRegisteredClass | scie | - |
| dc.description.journalRegisteredClass | scopus | - |
| dc.description.journalRegisteredClass | kci | - |
| dc.relation.journalResearchArea | Pathology | - |
| dc.relation.journalWebOfScienceCategory | Pathology | - |
| dc.subject.keywordPlus | PROTEIN-KINASE-A | - |
| dc.subject.keywordPlus | ENDOCRINE OVERACTIVITY | - |
| dc.subject.keywordPlus | SPOTTY PIGMENTATION | - |
| dc.subject.keywordPlus | REGULATORY SUBUNIT | - |
| dc.subject.keywordPlus | GENE | - |
| dc.subject.keywordPlus | MYXOMAS | - |
| dc.subject.keywordPlus | TUMORS | - |
| dc.subject.keywordPlus | PDE11A | - |
| dc.subject.keywordAuthor | Carney complex | - |
| dc.subject.keywordAuthor | PRKAR1A | - |
| dc.subject.keywordAuthor | PDE11A | - |
| dc.subject.keywordAuthor | Superficial angiomyxoma | - |
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