Wordt geladen...
Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2
Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural deafness and pigmentary abnormalities affecting the skin, hair and eye. The four subtypes of WS were defined on the basis of the presence or absence of additional...
Bewaard in:
| Gepubliceerd in: | J Hum Genet |
|---|---|
| Hoofdauteurs: | , , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group
2017
|
| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5489919/ https://ncbi.nlm.nih.gov/pubmed/28356565 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2017.30 |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|