ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.

This report describes twin girls with typical features of ataxia-telangiectasia, including increased alpha-fetoprotein, radio-resistant DNA synthesis, characteristic chromosome abnormality, and immunodeficiency. They have, in addition, microcephaly and mental retardation. Complementation studies wer...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Curry, C J, O'Lague, P, Tsai, J, Hutchison, H T, Jaspers, N G, Wara, D, Gatti, R A, Hutchinson, H T
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1989
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683342/
https://ncbi.nlm.nih.gov/pubmed/2491181
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