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Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
Laake K, Jansen L, Hahnemann JM, Brondum-Nielsen K, Lönnqvist T, Kääriäinen H, Sankila R, Lähdesmäki A, Hammarström L, Yuen J, Tretli S, Heiberg A, Olsen JH, Tucker M, Kleinerman R, Børresen-Dale AL. Laake K, et al. Among authors: heiberg a. Hum Mutat. 2000 Sep;16(3):232-46. doi: 10.1002/1098-1004(200009)16:3<232::AID-HUMU6>3.0.CO;2-L. Hum Mutat. 2000. PMID: 10980530
The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.
Stray-Pedersen A, Jónsson T, Heiberg A, Lindman CR, Widing E, Aaberge IS, Borresen-Dale AL, Abrahamsen TG. Stray-Pedersen A, et al. Among authors: heiberg a. Clin Exp Immunol. 2004 Jul;137(1):179-86. doi: 10.1111/j.1365-2249.2004.02492.x. Clin Exp Immunol. 2004. PMID: 15196260 Free PMC article.
162 results