Chromosome instability syndromes-Reference-Cited by-同舟云学术

Chromosome instability syndromes

Published:2019-09-19 Issue:1 Volume:5 Page:
ISSN:2056-676X
Container-title:Nature Reviews Disease Primers
language:en
Short-container-title:Nat Rev Dis Primers

Author:

Taylor A. Malcolm R.,Rothblum-Oviatt Cynthia,Ellis Nathan A.,Hickson Ian D.,Meyer Stefan,Crawford Thomas O.,Smogorzewska Agata,Pietrucha Barbara,Weemaes Corry,Stewart Grant S.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://www.nature.com/articles/s41572-019-0113-0.pdf

Reference232 articles.

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2. Ceccaldi, R., Sarangi, P. & D’Andrea, A. D. The Fanconi anaemia pathway: new players and new functions. Nat. Rev. Mol. Cell Biol. 17, 337–349 (2016). This review summarizes the biochemistry and cell biology of the Fanconi pathway proteins.

3. Knies, K. et al. Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. J. Clin. Invest. 127, 3013–3027 (2017).

4. Neveling, K., Endt, D., Hoehn, H. & Schindler, D. Genotype-phenotype correlations in Fanconi anemia. Mutat. Res. 668, 73–91 (2009).

5. Rosenberg, P. S., Tamary, H. & Alter, B. P. How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi anemia in the United States and Israel. Am. J. Med. Genet. A 155a, 1877–1883 (2011).

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