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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Orphan receptor, involved in vision. Required for signal transduction through retinal depolarizing bipolar cells.
基因功能參考文獻:
In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 or GPR179 gene. PMID: 27428514
We found 1 mutation in GPR179 in congenital stationary night blindness. PMID: 23714322
Additional screening with Sanger sequencing of 40 patients identified three other cCSNB patients harboring additional allelic mutations in GPR179. PMID: 22325361
相關(guān)疾病:
Night blindness, congenital stationary, 1E (CSNB1E)