ncRNA name | hsa-miR-184 |
ncRNA Category | miRNA |
Disease name | keratoconus |
Species | Homo sapiens |
Tissues/Cell_line | NA |
Methods | DNA sequencing |
Expression pattern | associated |
Functional description | In this study we report a five-generation family originating in Galicia, Spain with early onset cataracts and variable corneal abnormalities which include non-ectatic corneal thinning and severe early-onset keratoconus. We identified a heterozygous c.57 C > T mutation in miR-184 in the proband and two additional affected relatives on the maternal side. |
PubMed ID | 24138095 |
Year | 2015 |
Title | C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain. |
Drug-related ncRNA | NO |
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