Ten new ATM alterations in Polish patients with ataxia‐telangiectasia-Reference-Cited by-同舟云学术

Ten new ATM alterations in Polish patients with ataxia‐telangiectasia

Published:2014-07-30 Issue:6 Volume:2 Page:504-511
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Podralska Marta Joanna¹,Stembalska Agnieszka²,Ślęzak Ryszard²,Lewandowicz‐Uszyńska Aleksandra³,Pietrucha Barbara⁴,Kołtan Sylwia⁵,Wigowska‐Sowińska Jadwiga⁶,Pilch Jacek⁷,Mosor Maria¹,Ziółkowska‐Suchanek Iwona¹,Dzikiewicz‐Krawczyk Agnieszka¹,Słomski Ryszard¹

Affiliation:

1. Institute of Human Genetics of the Polish Academy of Sciences Poznań Poland

2. Department of Genetics Wroclaw Medical University Wroclaw Poland

3. 3rd Department and Clinic of Paediatrics Immunology and Rheumatology of Developmental Age Wroclaw Medical University Wroclaw Poland

4. Department of Immunology The Children's Memorial Health Institute Warsaw Poland

5. Department of Pediatrics, Hematology and Oncology Institute of Pediatrics Medical Academy Bydgoszcz Poland

6. Department of Developmental Neurology University of Medical Sciences Poznań Poland

7. Department of Child Neurology Medical University of Silesia Katowice Poland

Funder

Ministry of Science and Higher Education

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.98

Reference28 articles.

1. ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype

2. ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia

3. ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population

4. Comprehensive scanning of theATM gene with DOVAM-S

5. Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia

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