UNIVERSI
TÄ
TS-
BIBLIOTHEK
P
ADERBORN
Anmelden
Menü
Menü
Start
Hilfe
Blog
Weitere Dienste
Neuerwerbungslisten
Fachsystematik Bücher
Erwerbungsvorschlag
Bestellung aus dem Magazin
Fernleihe
Einstellungen
Sprache
Deutsch
Deutsch
Englisch
Farbschema
Hell
Dunkel
Automatisch
Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist
gegebenenfalls
nur via VPN oder Shibboleth (DFN-AAI) möglich.
mehr Informationen...
Universitätsbibliothek
Katalog
Suche
Details
Zur Ergebnisliste
Ergebnis 10 von 69
Datensatz exportieren als...
BibTeX
Progress in epidermolysis bullosa: Genetic classification and clinical implications
American journal of medical genetics. Part C, Seminars in medical genetics, 2004-11, Vol.131C (1), p.61-74
Uitto, Jouni
Richard, Gabriele
2004
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Uitto, Jouni
Richard, Gabriele
Titel
Progress in epidermolysis bullosa: Genetic classification and clinical implications
Ist Teil von
American journal of medical genetics. Part C, Seminars in medical genetics, 2004-11, Vol.131C (1), p.61-74
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2004
Quelle
MEDLINE
Beschreibungen/Notizen
Epidermolysis bullosa (EB), a heterogenous group of genodermatoses, is characterized by fragility and blistering of the skin associated with extracutaneous manifestations. Based on clinical severity, constellation of the phenotypic manifestations, and the level of tissue separation within the cutaneous basement membrane zone (BMZ), EB has been divided into distinct subcategories. Traditionally, these include the simplex, junctional, and dystrophic forms of EB, and recently attention has been drawn to hemidesmosomal variants demonstrating tissue separation at the level of the hemidesmosomes. Specific mutations in ten distinct genes expressed within the cutaneous BMZ have been delineated in >500 families with different variants of EB. The types of mutations, their positions along the affected genes, and their consequences at the mRNA and protein levels provide explanation for the phenotypic variability and genetic heterogeneity of this group of genodermatoses. Elucidation of mutations in different forms of EB has direct translational applications for improved diagnosis and molecularly based classification with prognostic implications as well as for genetic counseling and DNA‐based prenatal testing in families with EB. © 2004 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4868
eISSN: 1552-4876
DOI: 10.1002/ajmg.c.30035
Titel-ID: cdi_proquest_miscellaneous_67011471
Format
–
Schlagworte
Basement Membrane - pathology
,
blistering disorders
,
cutaneous basement membrane zone
,
DNA Mutational Analysis
,
DNA-based prenatal diagnosis
,
Epidermolysis Bullosa - classification
,
Epidermolysis Bullosa - diagnosis
,
Epidermolysis Bullosa - genetics
,
Epidermolysis Bullosa - pathology
,
Genotype
,
heritable skin diseases
,
Humans
,
Keratins - physiology
,
Models, Biological
,
Mutation - genetics
,
Phenotype
Weiterführende Literatur
Empfehlungen zum selben Thema automatisch vorgeschlagen von
bX