A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.
| Image |  |
|---|---|
| Description | scientific article published on 21 March 2016 |
| Author/s | |
| Publication date | May 20, 2016 |
| Language | |
| Country of origin | |
| Wikipedia link | |
| Copyright status | |
| Missing/wrong data? | Edit Wikidata item |