A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family
Abstract Background Retinitis pigmentosa (RP) is the most common type of inherited retinopathy. At least 69 genes for RP have been identified. A significant proportion of RP, however, remains genetically unsolved. In this study, the genetic basis of a Chinese consanguineous family with presumed auto...
Hoofdauteurs: | , , , , , , , |
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Formaat: | Artikel |
Taal: | English |
Gepubliceerd in: |
BMC
2023-01-01
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Reeks: | BMC Medical Genomics |
Onderwerpen: | |
Online toegang: | https://doi.org/10.1186/s12920-023-01430-0 |