New Type of Mutations in Three Spanish Families with Choroideremia-Reference-Cited by-同舟云学术

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New Type of Mutations in Three Spanish Families with Choroideremia

Published:2008-04-01 Issue:4 Volume:49 Page:1315
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Garcia-Hoyos Maria¹,Lorda-Sanchez Isabel¹,Go´mez-Garre Pilar²,Villaverde Cristina¹,Cantalapiedra Diego¹,Bustamante Ana¹,Diego-Alvarez Dan¹,Vallespin Elena¹,Gallego-Merlo Jesus¹,Trujillo Maria Jose¹,Ramos Carmen¹,Ayuso Carmen¹

Affiliation:

1. From the Departments of Genetics and

2. Neurology, CIBER-ER, Fundacio´n Jime´nez Di´az, Madrid, Spain.

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription;Genes;2021-07-22

2. CHMmutation spectrum and disease: An update at the time of human therapeutic trials;Human Mutation;2021-02-19

3. Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?;Expert Opinion on Orphan Drugs;2021-01-02

4. Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM);Graefe's Archive for Clinical and Experimental Ophthalmology;2019-10-26

5. A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia;Cells;2019-09-11

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