Journal of the European Academy of Dermatology and Venereology, 2018-12, Vol.32 (12), p.e440-e442
2018
Volltextzugriff (PDF)
Details
- Autor(en) / Beteiligte
- Titel
- A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling–Degos disease
- Ist Teil von
- Journal of the European Academy of Dermatology and Venereology, 2018-12, Vol.32 (12), p.e440-e442
- Ort / Verlag
- England: Wiley
- Erscheinungsjahr
- 2018
- Quelle
- MEDLINE
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0926-9959eISSN: 1468-3083DOI: 10.1111/jdv.14958Titel-ID: cdi_hal_primary_oai_HAL_hal_02621635v1
- Format
- –
- Schlagworte
- Codon, Nonsense, Dermatology, Female, Glucosyltransferases - genetics, Human health and pathology, Humans, Hyperpigmentation - diagnosis, Hyperpigmentation - genetics, Hyperpigmentation - pathology, Life Sciences, Middle Aged, Siblings, Skin Diseases, Genetic - diagnosis, Skin Diseases, Genetic - genetics, Skin Diseases, Genetic - pathology, Skin Diseases, Papulosquamous - diagnosis, Skin Diseases, Papulosquamous - genetics, Skin Diseases, Papulosquamous - pathology