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Analysis of mutations in the XPD gene in a patient with brittle hair
DC Field | Value | Language |
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dc.contributor.author | 김윤정 | - |
dc.contributor.author | 김주원 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 신새암 | - |
dc.date.accessioned | 2014-12-18T09:37:06Z | - |
dc.date.available | 2014-12-18T09:37:06Z | - |
dc.date.issued | 2013 | - |
dc.identifier.issn | 0091-7370 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/88509 | - |
dc.description.abstract | Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder characterized by sulfur-deficient brittle hair, growth and mental retardation, and ichthyosis. TTD is caused primarily by mutations in the xeroderma pigmentosum group D (XPD) gene, which encodes a subunit of the basal transcription factor IIH. We have identified a novel heterozygous mutation in XPD (c.1906C>T; p.R636W) resulting in mild-phenotype TTD in the proband and her mother. No identical variations were found in one hundred healthy Korean controls. In silico analysis suggested that the novel mutation was a causative mutation for TTD. This genotype-phenotype correlation provides a unique insight into the TTD inheritance pattern and could prove useful in the diagnosis of patients. | - |
dc.description.statementOfResponsibility | open | - |
dc.relation.isPartOf | ANNALS OF CLINICAL AND LABORATORY SCIENCE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Amino Acid Sequence | - |
dc.subject.MESH | DNA Primers/chemistry | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genetic Association Studies | - |
dc.subject.MESH | Hair Diseases/diagnosis* | - |
dc.subject.MESH | Hair Diseases/etiology* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Infant, Newborn | - |
dc.subject.MESH | Molecular Sequence Data | - |
dc.subject.MESH | Mutation/genetics* | - |
dc.subject.MESH | Polymerase Chain Reaction | - |
dc.subject.MESH | Sequence Homology, Amino Acid | - |
dc.subject.MESH | Trichothiodystrophy Syndromes/complications | - |
dc.subject.MESH | Trichothiodystrophy Syndromes/diagnosis* | - |
dc.subject.MESH | Trichothiodystrophy Syndromes/genetics* | - |
dc.subject.MESH | Xeroderma Pigmentosum Group D Protein/genetics* | - |
dc.title | Analysis of mutations in the XPD gene in a patient with brittle hair | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Saeam Shin | - |
dc.contributor.googleauthor | Juwon Kim | - |
dc.contributor.googleauthor | Yoonjung Kim | - |
dc.contributor.googleauthor | Je Young Sun | - |
dc.contributor.googleauthor | Jong Ha Yoo | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.identifier.doi | 23884229 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00793 | - |
dc.contributor.localId | A00943 | - |
dc.contributor.localId | A02647 | - |
dc.relation.journalcode | J00155 | - |
dc.identifier.eissn | 1550-8080 | - |
dc.identifier.pmid | 23884229 | - |
dc.identifier.url | http://www.annclinlabsci.org/content/43/3/323.long | - |
dc.subject.keyword | XPD | - |
dc.subject.keyword | autosomal dominant | - |
dc.subject.keyword | genotype-phenotype correlation | - |
dc.subject.keyword | trichothiodystrophy | - |
dc.contributor.alternativeName | Kim, Yoon Jung | - |
dc.contributor.alternativeName | Kim, Ju Won | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Kim, Yoon Jung | - |
dc.contributor.affiliatedAuthor | Kim, Ju Won | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.rights.accessRights | not free | - |
dc.citation.volume | 43 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 323 | - |
dc.citation.endPage | 327 | - |
dc.identifier.bibliographicCitation | ANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.43(3) : 323-327, 2013 | - |
dc.identifier.rimsid | 34353 | - |
dc.type.rims | ART | - |
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