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A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
DC Field | Value | Language |
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dc.contributor.author | Woo, SI | - |
dc.contributor.author | Song, H | - |
dc.contributor.author | Song, KE | - |
dc.contributor.author | Kim, DJ | - |
dc.contributor.author | Lee, KW | - |
dc.contributor.author | Kim, SJ | - |
dc.contributor.author | Chung, YS | - |
dc.date.accessioned | 2011-03-30T01:50:04Z | - |
dc.date.available | 2011-03-30T01:50:04Z | - |
dc.date.issued | 2006 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.uri | http://repository.ajou.ac.kr/handle/201003/2057 | - |
dc.description.abstract | Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifesting a relatively benign, lifelong, persistent hypercalcemia and hypocalciuria without hypercalcemic related complications. The calcium-sensing receptor (CaSR) plays an important role in the regulation of PTH secretion and calcium metabolism. Here we present a family with FBHH of an autosomal dominant inheritance. A heterozygous mutation of E297K (GAG --> AAG, exon 4) of CaSR gene was found in 3 family members. To our knowledge, it is the first confirmed case of FBHH with CaSR gene mutation in Korea. | - |
dc.language.iso | en | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | DNA | - |
dc.subject.MESH | DNA Restriction Enzymes | - |
dc.subject.MESH | Exons | - |
dc.subject.MESH | Family Health | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genes, Dominant | - |
dc.subject.MESH | Heterozygote | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Hypercalcemia | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Metabolism, Inborn Errors | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Parathyroid Hormone | - |
dc.subject.MESH | Pedigree | - |
dc.subject.MESH | Receptors, Calcium-Sensing | - |
dc.subject.MESH | Sequence Analysis, DNA | - |
dc.title | A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene. | - |
dc.type | Article | - |
dc.identifier.pmid | 16642557 | - |
dc.identifier.url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687637/ | - |
dc.contributor.affiliatedAuthor | 김, 대중 | - |
dc.contributor.affiliatedAuthor | 이, 관우 | - |
dc.contributor.affiliatedAuthor | 김, 세중 | - |
dc.contributor.affiliatedAuthor | 정, 윤석 | - |
dc.type.local | Journal Papers | - |
dc.identifier.doi | 10.3349/ymj.2006.47.2.255 | - |
dc.citation.title | Yonsei medical journal | - |
dc.citation.volume | 47 | - |
dc.citation.number | 2 | - |
dc.citation.date | 2006 | - |
dc.citation.startPage | 255 | - |
dc.citation.endPage | 258 | - |
dc.identifier.bibliographicCitation | Yonsei medical journal, 47(2). : 255-258, 2006 | - |
dc.identifier.eissn | 1976-2437 | - |
dc.relation.journalid | J005135796 | - |
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