| Autor: |
Bong Jik, Kim, Hyoung Won, Jeon, Woosung, Jeon, Jin Hee, Han, Jayoung, Oh, Nayoung, Yi, Min Young, Kim, Minah, Kim, Justin Namju, Kim, Bo Hye, Kim, Joon Young, Hyon, Dongsup, Kim, Ja-Won, Koo, Doo-Yi, Oh, Byung Yoon, Choi |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Journal of medical genetics. 59(5) |
| ISSN: |
1468-6244 |
| Popis: |
Down-sloping sensorineural hearing loss (SNHL) in people in their teens and 20s hampers efficient learning and communication and in-depth social interactions. Nonetheless, its aetiology remains largely unclear, with the exception of some potential causative genes, none of which stands out especially in people in their teens and 20s. Here, we examined the role and genotype-phenotype correlation of lipoxygenase homology domain 1 (Based on the Seoul National University Bundang Hospital (SNUBH) genetic deafness cohort, in which the patients show varying degrees of deafness and different onset ages (n=1055), we have established the 'SNUBH Teenager-Young Adult Down-sloping SNHL' cohort (10-35 years old) (n=47), all of whom underwent exome sequencing. Three-dimensional molecular modelling, minigene splicing assay and short tandem repeat marker genotyping were performed, and medical records were reviewed. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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