Ten new ATM alterations in Polish patients with ataxia-telangiectasia

Inherited biallelic mutations of the ATM gene are responsible for the development of ataxia telangiectasia (AT). The objective of the present study was to conduct molecular analysis of the ATM gene in a cohort of 24 Polish patients with ataxia-telangiectasia with aim being to provide an updated muta...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Podralska, Marta Joanna, Stembalska, Agnieszka, Ślęzak, Ryszard, Lewandowicz-Uszyńska, Aleksandra, Pietrucha, Barbara, Kołtan, Sylwia, Wigowska-Sowińska, Jadwiga, Pilch, Jacek, Mosor, Maria, Ziółkowska-Suchanek, Iwona, Dzikiewicz-Krawczyk, Agnieszka, Słomski, Ryszard
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2014
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4303220/
https://ncbi.nlm.nih.gov/pubmed/25614872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.98
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