Výsledky vyhledávání - "Takahumi Inoue"

Hereditary spherocytic anemia with deletion of the short arm of chromosome 8

Autor: Yoshinao Wada, Shiro Miwa, Kikuno Murayama, Yoich Nakamura, Masahiro Nakayama, Hide-aki Chiyo, Akira Hirono, Yoshihito Yawata, Nobuhiko Okamoto, Akio Kanzaki, Takahumi Inoue

Publikováno v: American Journal of Medical Genetics. 58:225-229

We describe a 30-month-old boy with multiple anomalies and mental retardation with hereditary spherocytic anemia. His karyotype was 46,XY,del(8)(p11.23p21.1). Genes for ankyrin and glutathione reductase (GSR) were localized to chromosome areas 8p11.2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::793de20f9806b38036b81d5ff9cff387
https://doi.org/10.1002/ajmg.1320580306

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