Homozygous nonsense mutation and additional deletion of an amino acid in BPAG1e causing mild localized Epidermolysis Bullosa simplex
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
Acta dermato-venereologica. - 97 (2017) , 657-659, ISSN: 1651-2057
- Event
-
Veröffentlichung
- (where)
-
Freiburg
- (who)
-
Universität
- (when)
-
2023
- Creator
- DOI
-
10.2340/00015555-2618
- URN
-
urn:nbn:de:bsz:25-freidok-1423242
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:53 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- He, Yinghong
- Leppert, Juna
- Steinke, Holger
- Has, Cristina
- Universität
Time of origin
- 2023
Other Objects (12)
Strategy for the optimization of read-through therapy for junctional epidermolysis bullosa with COL17A1 nonsense mutation
Molecular therapeutics in development for Epidermolysis bullosa: update 2020
Treatment of epidermolysis bullosa and future directions: a review
Molecular and genetic mechanisms in junctional epidermolysis bullosa
Dupilumab verbessert Juckreiz und Blasenbildung bei verschiedenen Subtypen der Epidermolysis bullosa : = Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa
Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa
Junctional epidermolysis bullosa: allelic heterogeneity and mutation stratification for precision medicine
Orale Manifestationen bei Epidermolysis bullosa junktionalis: Genotyp-Phänotyp Korrelationen
A silent COL17A1 variant alters splicing and causes junctional epidermolysis bullosa
The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis
Successful multidisciplinary treatment of chronic facial wounds in junctional epidermolysis bullosa
Betulin-based oleogel to improve wound healing in dystrophic epidermolysis bullosa: a prospective controlled proof-of-concept study
Strategy for the optimization of read-through therapy for junctional epidermolysis bullosa with COL17A1 nonsense mutation
Molecular therapeutics in development for Epidermolysis bullosa: update 2020
Treatment of epidermolysis bullosa and future directions: a review
Molecular and genetic mechanisms in junctional epidermolysis bullosa
Dupilumab verbessert Juckreiz und Blasenbildung bei verschiedenen Subtypen der Epidermolysis bullosa : = Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa
Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa
Junctional epidermolysis bullosa: allelic heterogeneity and mutation stratification for precision medicine
Orale Manifestationen bei Epidermolysis bullosa junktionalis: Genotyp-Phänotyp Korrelationen
A silent COL17A1 variant alters splicing and causes junctional epidermolysis bullosa
The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis
Successful multidisciplinary treatment of chronic facial wounds in junctional epidermolysis bullosa
Betulin-based oleogel to improve wound healing in dystrophic epidermolysis bullosa: a prospective controlled proof-of-concept study
Strategy for the optimization of read-through therapy for junctional epidermolysis bullosa with COL17A1 nonsense mutation
Molecular therapeutics in development for Epidermolysis bullosa: update 2020
Treatment of epidermolysis bullosa and future directions: a review
Molecular and genetic mechanisms in junctional epidermolysis bullosa
Dupilumab verbessert Juckreiz und Blasenbildung bei verschiedenen Subtypen der Epidermolysis bullosa : = Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa
Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa
Junctional epidermolysis bullosa: allelic heterogeneity and mutation stratification for precision medicine
Orale Manifestationen bei Epidermolysis bullosa junktionalis: Genotyp-Phänotyp Korrelationen
A silent COL17A1 variant alters splicing and causes junctional epidermolysis bullosa
The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis
Successful multidisciplinary treatment of chronic facial wounds in junctional epidermolysis bullosa