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NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 4
Scientific background:
Summary: The protein product plays an important role in inactivation of the aldosterone-sensitive sodium channel. Dysfunction is associated with Liddle syndrome.
Pathology: The protein contains a WW domain, which binds with the PP.Y domain of the gamma and beta subunits of the aldosterone-sensitive sodium channel (ENaC). This interaction leads to ubiquitylation, internalization, and finally inactivation of the channel.
Methodology:
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research
test |
Method |
Genomic sequencing of the entire coding region |
| Turn-around time |
25 working days |
| Effort |
25 working days |
| Specimen |
DNA |
| Quality assessment |
Internal quality control only |
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All known and new missense, nonsense and splice mutations can be detected. |
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