Literature DB >> 7906987

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome.

A Villa1, D Strina, P Macchi, M C Patrosso, P Vezzoni, P A Tovo, S Giliani, A G Ugazio, L D Notarangelo.   

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Year:  1994        PMID： 7906987     DOI： 10.1002/humu.1380030115

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  4 in total

Review 1.  The hyper-IgM (HIM) syndrome.

Authors:  N Ramesh; M Seki; L D Notarangelo; R S Geha
Journal:  Springer Semin Immunopathol       Date:  1998

2.  A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

Authors:  Q Lin; J Rohrer; R C Allen; M Larché; J M Greene; A O Shigeoka; R A Gatti; D C Derauf; J W Belmont; M E Conley
Journal:  J Clin Invest       Date:  1996-01-01       Impact factor: 14.808

3.  Genomic structure and PCR-SSCP analysis of the human CD40 ligand gene: its application to prenatal screening for X-linked hyper-IgM syndrome.

Authors:  K Seyama; S Kira; K Ishidoh; S Souma; T Miyakawa; E Kominami
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

4.  Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

Authors:  P Macchi; A Villa; D Strina; M G Sacco; F Morali; D Brugnoni; S Giliani; E Mantuano; A Fasth; B Andersson
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025
  4 in total

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