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...

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Detalles Bibliográficos
Autores principales: Higuchi, Yousuke, Shimizu, Junya, Hatanaka, Michiyo, Kitano, Etsuko, Kitamura, Hajime, Takada, Hidetoshi, Ishimura, Masataka, Hara, Toshiro, Ohara, Osamu, Asagoe, Kenji, Kubo, Toshihide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
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

Internet

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

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