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020 ▼a 9780438035997
035 ▼a (MiAaPQ)AAI10748306
035 ▼a (MiAaPQ)upenngdas:13126
040 ▼a MiAaPQ ▼c MiAaPQ ▼d 248032
0491 ▼f DP
0820 ▼a 615
1001 ▼a Clark, Elisia.
24510 ▼a Investigating Molecular Mechanisms Underlying Mild Phenotype in Friedreich Ataxia Patients with G130V Missense Mutation.
260 ▼a [S.l.] : ▼b University of Pennsylvania., ▼c 2018
260 1 ▼a Ann Arbor : ▼b ProQuest Dissertations & Theses, ▼c 2018
300 ▼a 100 p.
500 ▼a Source: Dissertation Abstracts International, Volume: 79-10(E), Section: B.
500 ▼a Advisers: David Lynch
5021 ▼a Thesis (Ph.D.)--University of Pennsylvania, 2018.
520 ▼a 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
590 ▼a School code: 0175.
650 4 ▼a Pharmacology.
650 4 ▼a Neurosciences.
650 4 ▼a Molecular biology.
690 ▼a 0419
690 ▼a 0317
690 ▼a 0307
71020 ▼a University of Pennsylvania. ▼b Pharmacology.
7730 ▼t Dissertation Abstracts International ▼g 79-10B(E).
773 ▼t Dissertation Abstract International
790 ▼a 0175
791 ▼a Ph.D.
792 ▼a 2018
793 ▼a English
85640 ▼u http://www.riss.kr/pdu/ddodLink.do?id=T14996979 ▼n KERIS
980 ▼a 201812 ▼f 2019
990 ▼a 관리자 ▼b 관리자