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The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report
C1q deficiency is a rare disease that is associated with a high probability of developing systemic lupus erythematosus. We report a 4-year-old Japanese girl who presented with fever, facial erythema, joint pain, and oral ulceration. Complement deficiencies were suspected because of her persistent hy...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874733/ https://www.ncbi.nlm.nih.gov/pubmed/24160257 http://dx.doi.org/10.1186/1546-0096-11-41 |