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BROWSE
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A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Lee, EH | - |
| dc.contributor.author | Park, JH | - |
| dc.contributor.author | Coe, CJ | - |
| dc.contributor.author | Hahn, SH | - |
| dc.date.accessioned | 2011-07-28T05:16:35Z | - |
| dc.date.available | 2011-07-28T05:16:35Z | - |
| dc.date.issued | 2000 | - |
| dc.identifier.issn | 1059-7794 | - |
| dc.identifier.uri | http://repository.ajou.ac.kr/handle/201003/3668 | - |
| dc.language.iso | en | - |
| dc.subject.MESH | Child, Preschool | - |
| dc.subject.MESH | Humans | - |
| dc.subject.MESH | Infant | - |
| dc.subject.MESH | Male | - |
| dc.subject.MESH | Molecular Sequence Data | - |
| dc.subject.MESH | Mutation, Missense | - |
| dc.subject.MESH | Phenotype | - |
| dc.subject.MESH | Sandhoff Disease | - |
| dc.subject.MESH | beta-N-Acetylhexosaminidases | - |
| dc.title | A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case. | - |
| dc.type | Article | - |
| dc.identifier.pmid | 10923050 | - |
| dc.contributor.affiliatedAuthor | 한, 시훈 | - |
| dc.type.local | Journal Papers | - |
| dc.identifier.doi | 10.1002/1098-1004(200008)16:2<180::AID-HUMU21>3.0.CO;2-X | - |
| dc.citation.title | Human mutation | - |
| dc.citation.volume | 16 | - |
| dc.citation.number | 2 | - |
| dc.citation.date | 2000 | - |
| dc.citation.startPage | 180 | - |
| dc.citation.endPage | 181 | - |
| dc.identifier.bibliographicCitation | Human mutation, 16(2). : 180-181, 2000 | - |
| dc.identifier.eissn | 1098-1004 | - |
| dc.relation.journalid | J010597794 | - |
- Appears in Collections:
- Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
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