Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M.
作者信息
Kraakman M E, de Weers M, Español T, Schuurman R K, Hendriks R W
机构信息
Department of Immunohaematology, University Hospital Leiden, The Netherlands.
出版信息
Clin Genet. 1995 Jul;48(1):46-8. doi: 10.1111/j.1399-0004.1995.tb04053.x.
Abstract
A 13-year-old boy with immunodeficiency with hyper-IgM was analyzed for mutations in the CD40L gene. An insertional mutation of an extra T in a run of four T's was found in the second exon of the gene, leading to a premature translation stop. Genetic counselling of the family was performed, based on mutation detection by PCR/oligohybridization.
摘要
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