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Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M.
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- Additional Information
- Source:
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
- Publication Information:
Original Publication: Copenhagen, Munksgaard.
- Subject Terms:
- 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.
- Accession Number:
0 (CD40 Antigens)
0 (Immunoglobulin M)
0 (Membrane Glycoproteins)
147205-72-9 (CD40 Ligand)
9007-49-2 (DNA)
- Publication Date:
Date Created: 19950701 Date Completed: 19951130 Latest Revision: 20190816
- Publication Date:
20221213
- Accession Number:
10.1111/j.1399-0004.1995.tb04053.x
- Accession Number:
7586644
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