SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature

Matthew M. Heeney, Simon Berhe, Dean R. Campagna, Joseph H. Oved, Peter Kurre, Peter J. Shaw, Juliana Teo, Mayada A. Shanap, Hoda M. Hassab, Bertil E. Glader, Sanjay Shah, Ayami Yoshimi, Afshin Ameri, Joseph H. Antin, Jeanne Boudreaux, Michael Briones, Kathryn E. Dickerson, Conrad V. Fernandez, Roula Farah, Henrik HasleSioban B. Keel, Timothy S. Olson, Jacquelyn M. Powers, Melissa J. Rose, Akiko Shimamura, Sylvia S. Bottomley, Mark D. Fleming

科研成果: 期刊稿件文章同行评审

18 引用 (Scopus)
源语言英语
页(从-至)1367-1383
页数17
期刊Human Mutation
42
11
DOI
出版状态已出版 - 11月 2021

!!!ASJC Scopus Subject Areas

  • 遗传学(临床)
  • 遗传学

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Heeney, M. M., Berhe, S., Campagna, D. R., Oved, J. H., Kurre, P., Shaw, P. J., Teo, J., Shanap, M. A., Hassab, H. M., Glader, B. E., Shah, S., Yoshimi, A., Ameri, A., Antin, J. H., Boudreaux, J., Briones, M., Dickerson, K. E., Fernandez, C. V., Farah, R., ... Fleming, M. D. (2021). SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. Human Mutation, 42(11), 1367-1383. https://doi.org/10.1002/humu.24267