자료유형 | 학위논문 |
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서명/저자사항 | Use of Induced Pluripotent Stem Cell Models to Elucidate Retinal Disease Pathogenesis and to Develop Gene-based Therapies. |
개인저자 | Duong, Thu Thi. |
단체저자명 | University of Pennsylvania. Cell and Molecular Biology. |
발행사항 | [S.l.]: University of Pennsylvania., 2018. |
발행사항 | Ann Arbor: ProQuest Dissertations & Theses, 2018. |
형태사항 | 95 p. |
기본자료 저록 | Dissertation Abstracts International 79-10B(E). Dissertation Abstract International |
ISBN | 9780438037373 |
학위논문주기 | Thesis (Ph.D.)--University of Pennsylvania, 2018. |
일반주기 |
Source: Dissertation Abstracts International, Volume: 79-10(E), Section: B.
Adviser: Jean Bennett. |
요약 | Choroideremia (CHM) is a rare monogenic, X-linked recessive inherited retinal degenerative disease caused by mutations in the Rab Escort Protein-1 (REP1) encoding CHM gene. CHM is characterized by childhood-onset night blindness (nyctalopia), pr |
일반주제명 | Molecular biology. |
언어 | 영어 |
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