Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum

Summary Background. Pyoderma gangrenosum (PG) is a rare, noninfectious form of skin ulceration, typically accompanied by neutrophilic infiltration. Several familial cases have been reported, suggesting the involvement of genetic factors in the aetiology of PG. Two mutations (A230T and E250Q) in the...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Clinical and experimental dermatology 2011-12, Vol.36 (8), p.889-895
Hauptverfasser:	Nesterovitch, A. B., Hoffman, M. D., Simon, M., Petukhov, P. A., Tharp, M. D., Glant, T. T.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acne Adaptor Proteins, Signal Transducing - genetics Adult Aged Aged, 80 and over Algorithms Alternative Splicing Arthritis Cytoskeletal Proteins - genetics DNA DNA, Complementary - genetics Exons Exons - genetics Female Frameshift Mutation - genetics Gene polymorphism Genes Genetic factors genomics Hereditary diseases Heredity Humans Leukocytes (neutrophilic) Male Middle Aged Mutation Nonsense mutation Nucleotide sequence Patients Peripheral blood Polymorphism, Genetic Promoter Regions, Genetic - genetics Promoters Pyoderma gangrenosum Pyoderma Gangrenosum - genetics Sequence Deletion Skin Splicing Transcription Young Adult
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!