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High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma
Uveal coloboma is a potentially blinding congenital ocular malformation caused by the failure of optic fissure closure during the fifth week of human gestation. We performed custom capture high‐throughput screening of 38 known coloboma‐associated genes in 66 families. Suspected causative novel varia...
Tallennettuna:
| Julkaisussa: | Hum Mutat |
|---|---|
| Päätekijät: | , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
John Wiley and Sons Inc.
2019
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7027867/ https://ncbi.nlm.nih.gov/pubmed/31816153 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23954 |
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