Publications
Detailed Information
Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Chae, Jong Hee | - |
dc.contributor.author | Kim, Ki Joong | - |
dc.contributor.author | Hwang, Yong Seung | - |
dc.contributor.author | Ki, Chang-Seok | - |
dc.contributor.author | Kim, Jong-Won | - |
dc.date.accessioned | 2010-01-12T07:59:48Z | - |
dc.date.available | 2010-01-12T07:59:48Z | - |
dc.date.issued | 2007-11-17 | - |
dc.identifier.citation | J Child Neurol. 2007 Nov;22(11):1297-300. | en |
dc.identifier.issn | 0883-0738 (Print) | - |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18006960 | - |
dc.identifier.uri | https://hdl.handle.net/10371/29773 | - |
dc.description.abstract | Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory features typical of Smith-Lemli-Opitz syndrome. The Lys376ArgfsX37 mutation is a novel mutation, and to the best of the authors' knowledge, this is the first report of a clinically and genetically confirmed case of Smith-Lemli-Opitz syndrome in Korea. | en |
dc.language.iso | en | en |
dc.publisher | Sage | en |
dc.subject | Arginine/genetics | en |
dc.subject | DNA Mutational Analysis | en |
dc.subject | Female | en |
dc.subject | Humans | en |
dc.subject | Infant | en |
dc.subject | Korea | en |
dc.subject | Lysine/genetics | en |
dc.subject | Oxidoreductases Acting on CH-CH Group Donors/*genetics | en |
dc.subject | Smith-Lemli-Opitz Syndrome/*genetics/pathology | en |
dc.subject | Mutation | - |
dc.title | Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 기창석 | - |
dc.contributor.AlternativeAuthor | 김종원 | - |
dc.identifier.doi | 10.1177/0883073807307099 | - |
- Appears in Collections:
- Files in This Item:
- There are no files associated with this item.
Item View & Download Count
Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.