Investigative ophthalmology & visual science۲۰۲۶مطالعه مشاهده اینمایه شده در PubMed
Yunnie Cho, Kwangsic Joo, Sohee Jeon, Eun Kyoung Lee, Jae Shin Song, Sungsoon Hwang, Jinu Han, Jay Jiyong Kwak, Suk Ho Byeon, Min Kim, Yong Joon Kim, Junwon Lee, Chang Ki Yoon, Min Sagong, Areum Jeong, Mirinae Kim, Ji Hye Lee, Hyewon Chung, Hyeong Min Kim, Dong Ho Park, Sang Jin Kim, Christopher Seungkyu Lee, Se Joon Woo
چکیده
To define the allelic architecture and phenotypic spectrum of RP1-associated retinal dystrophies in a large Korean cohort, emphasizing recurrent truncating alleles, phasing of linked variants, and mobile-element insertions (MEIs) underdetected by standard next-generation sequencing. This…
متن کامل چکیده در سایت ناشر در دسترس است.
DOI: 10.1167/iovs.67.12.17