| Autor: |
Ji Hyun Kim, Seon Hee Lim, Ji Yeon Song, Myung Hyun Cho, HyeSun Hyun, Eun Mi Yang, Jung Won Lee, Min Hyun Cho, Min Ji Park, Joo Hoon Lee, Jiwon Jung, Kee Hwan Yoo, Kyung Mi Jang, Ki Soo Pai, Jin-Soon Suh, Mee Kyung Namgoong, Woo Yeong Chung, Su Jin Kim, Eun Young Cho, Kyung Min Kim, Nam Hee Kim, Minsun Kim, Jin Ho Paik, Hee Gyung Kang, Yo Han Ahn, Hae Il Cheong |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2045-2322 |
| DOI: |
10.1038/s41598-023-34053-7 |
| Popis: |
Abstract The genotype–phenotype correlation of the X-linked Alport syndrome (XLAS) has been well elucidated in males, whereas it remains unclear in females. In this multicenter retrospective study, we analyzed the genotype–phenotype correlation in 216 Korean patients (male:female = 130:86) with XLAS between 2000 and 2021. The patients were divided into three groups according to their genotypes: the non-truncating group, the abnormal splicing group, and the truncating group. In male patients, approximately 60% developed kidney failure at the median age of 25.0 years, and kidney survival showed significant differences between the non-truncating and truncating groups (P |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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