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Investigating Molecular Mechanisms Underlying Mild Phenotype in Friedreich Ataxia Patients with G130V Missense Mutation
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| 자료유형 | 학위논문 |
|---|---|
| 서명/저자사항 | Investigating Molecular Mechanisms Underlying Mild Phenotype in Friedreich Ataxia Patients with G130V Missense Mutation. |
| 개인저자 | Clark, Elisia. |
| 단체저자명 | University of Pennsylvania. Pharmacology. |
| 발행사항 | [S.l.]: University of Pennsylvania., 2018. |
| 발행사항 | Ann Arbor: ProQuest Dissertations & Theses, 2018. |
| 형태사항 | 100 p. |
| 기본자료 저록 | Dissertation Abstracts International 79-10B(E). Dissertation Abstract International |
| ISBN | 9780438035997 |
| 학위논문주기 | Thesis (Ph.D.)--University of Pennsylvania, 2018. |
| 일반주기 |
Source: Dissertation Abstracts International, Volume: 79-10(E), Section: B.
Advisers: David Lynch |
| 요약 | Friedreich's Ataxia (FRDA) is an incurable neurodegenerative disease caused by mutations in the frataxin (FXN) gene, resulting in decreased expression of the mitochondrial protein FXN. 2-3% of FRDA patients carry a GAA expansion on one FXN allel |
| 일반주제명 | Pharmacology. Neurosciences. Molecular biology. |
| 언어 | 영어 |
| 바로가기 | 
: 이 자료의 원문은 한국교육학술정보원에서 제공합니다. |
