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Identification of a Novel p.Q1772X ANK1 Mutation in a Korean Family with Hereditary Spherocytosis

Hereditary spherocytosis (HS), a common form of inherited hemolytic anemia, is a heterogeneous group of disorders with regard to clinical severity, protein defects, and mode of inheritance. Causal mutations in at least five genes have been reported so far. Because multiple genes have been associated...

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Publicado en:PLoS One
Main Authors: Han, Joo Hyung, Kim, Seung, Jang, Hoon, Kim, So Won, Lee, Min Goo, Koh, Hong, Lee, Ji Hyun
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2015
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4480973/
https://ncbi.nlm.nih.gov/pubmed/26107955
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0131251
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