Complex medical history of a patient with a compound heterozygous mutation in C1QC

INTRODUCTION: C1q is an essential part of the classical pathway of complement activation. Genetic deficiencies, caused by homozygous mutations in one of the C1q genes, are rare and are strongly associated with development of systemic lupus erythematosus (SLE). Here we describe a C1q-deficient patien...

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Detalles Bibliográficos
Autores principales: Lubbers, R, Beaart-van de Voorde, L J J, van Leeuwen, K, de Boer, M, Gelderman, K A, van den Berg, M J, Ketel, A G, Simon, A, de Ree, J, Huizinga, T W J, Steup-Beekman, G M, Trouw, L A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710612/
https://www.ncbi.nlm.nih.gov/pubmed/31357913
http://dx.doi.org/10.1177/0961203319865029

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710612/
https://www.ncbi.nlm.nih.gov/pubmed/31357913
http://dx.doi.org/10.1177/0961203319865029

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