Prenatal diagnosis of heterozygous deficiency of the second component of complement.
AUTOR(ES)
Sullivan, K E
RESUMO
Genetically determined C2 deficiency predisposes an individual to recurrent and invasive bacterial infections as well as a variety of rheumatic diseases. Most C2-deficient individuals carry the same 28-bp deletion in the sixth exon of the C2 gene. The present article reports the first prenatal analysis of a sibling of a C2-deficient patient; the sibling was found to be a heterozygous carrier of the 28-bp deletion of C2.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=368348Documentos Relacionados
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