The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents

Eleven Norwegian patients (aged 2–33 years, seven males and four females) with Ataxia-telangiectasia (A-T) and their parents were investigated. Five of the patients were homozygous for the same ATM mutation, 3245delATCinsTGAT, a Norwegian founder mutation. They had the lowest IgG2 levels; mean (95%...

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Main Authors: STRAY-PEDERSEN, A, JÓNSSON, T, HEIBERG, A, LINDMAN, C R, WIDING, E, AABERGE, I S, BORRESEN-DALE, A L, ABRAHAMSEN, T G
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Science Inc 2004
Assuntos:
Clinical Studies
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1809075/
https://ncbi.nlm.nih.gov/pubmed/15196260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1365-2249.2004.02492.x
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