A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, predisposition to cancer, and congenital abnormalities. FA is caused by pathogenic variants in any of 22 genes involved in the DNA repair pathway responsible for removing interstrand crosslinks. FANCL, an E3 ubiquit...

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Publicado no:Hum Mutat
Main Authors: Donovan, Frank X., Solanki, Avani, Mori, Minako, Chavan, Niranjan, George, Merin, Selvaa, Kumar C, Okuno, Yusuke, Muramastsu, Hideki, Yoshida, Kenichi, Shimamoto, Akira, Takaori-Kondo, Akifumi, Yabe, Hiromasa, Ogawa, Seishi, Kojima, Seiji, Yabe, Miharu, Ramanagoudr-Bhojappa, Ramanagouda, Smogorzewska, Agata, Mohan, Sheila, Rajendran, Aruna, Auerbach, Arleen D, Takata, Minoru, Chandrasekharappa, Settara C., Vundinti, Babu Rao
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7362330/
https://ncbi.nlm.nih.gov/pubmed/31513304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23914
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