Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients

Minako Mori; Asuka Hira; Kenichi Yoshida; Hideki Muramatsu; Yusuke Okuno; Yuichi Shiraishi; Michiko Anmae; Jun Yasuda; Shu Tadaka; Kengo Kinoshita; Tomoo Osumi; Yasushi Noguchi; Souichi Adachi; Ryōji Kobayashi; Hiroshi Kawabata; Kohsuke Imai; Tomohiro Morio; Kazuo Tamura; Akifumi Takaori‐Kondo; Masayuki Yamamoto; Satoru Miyano; Seiji Kojima; Etsuro Ito; Seishi Ogawa; Keitaro Matsuo; Hiromasa Yabe; Miharu Yabe; Minoru Takata

doi:10.3324/haematol.2018.207241

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Abstract

gene variants, excluding missense mutations. This is the largest series of subtyped Japanese Fanconi anemia patients to date and the results will be useful for future clinical management.

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Mori et al. (2019) studied this question.

synapsesocial.com/papers/6a01debee8ec6bd19dcb06d3 https://doi.org/10.3324/haematol.2018.207241

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Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients

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Abstract

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Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients

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