C1q deficiency: Identification of a novel missense mutation and treatment with fresh frozen plasma

Clinical Rheumatology

Volumn 31, Issue 7, 2012, Pages 1123-1126

  Topaloglu, Rezan ^a   Taskiran, Ekim Z ^a   Tan, Cagman ^a   Erman, Baran ^a   Ozaltin, Fatih ^a   Sanal, Ozden ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

C1q deficiency; Fresh frozen plasma; Missense mutation; Novel mutation; SLE; Treatment

Indexed keywords

AZATHIOPRINE; COMPLEMENT COMPONENT C1Q; FRESH FROZEN PLASMA; HEMOGLOBIN; HYDROXYCHLOROQUINE; PREDNISOLONE;

APHTHOUS ULCER; ARTHRALGIA; ARTICLE; C1Q DEFICIENCY; CASE REPORT; CHILD; COMPLEMENT HEMOLYSIS TEST; CONTROLLED STUDY; DNA SEQUENCE; ERYTHEMA; FATIGUE; FEMALE; GENETIC ANALYSIS; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LEUKOCYTE COUNT; LOW DRUG DOSE; MISSENSE MUTATION; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RASH; RECURRENT INFECTION; SKIN DEFECT; SYSTEMIC LUPUS ERYTHEMATOSUS; THROMBOCYTE COUNT;

CHILD; COMPLEMENT C1Q; FEMALE; HOMOZYGOTE; HUMANS; MUTATION, MISSENSE; PEDIGREE; PLASMA;

EID: 84863728005     PISSN: 07703198     EISSN: 14349949     Source Type: Journal    
DOI: 10.1007/s10067-012-1978-4     Document Type: Article

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