Cargando…
Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients
Autores principales: | Rowczenio, D, Gomes, S Melo, Aróstegui, J, Omoyinmi, E, Gonzalez-Roca, E, Standing, A, Eleftheriou, D, Klein, N, Brogan, P, Lachmann, H, Hawkins, P |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4597082/ http://dx.doi.org/10.1186/1546-0096-13-S1-P37 |
Ejemplares similares
-
The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patients
por: Gomes, Sonia Melo, et al.
Publicado: (2014) -
Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience
por: Rowczenio, Dorota M., et al.
Publicado: (2017) -
Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome
por: Omoyinmi, Ebun, et al.
Publicado: (2014) -
First case of somatic mosaicism in TRAPS caused by a novel 24 nucleotides deletion in the TNFRSF1A gene
por: Rowczenio, D, et al.
Publicado: (2015) -
Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA
por: Gomes, S Melo, et al.
Publicado: (2015)