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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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Dettagli Bibliografici
Pubblicato in:PLoS One
Autori principali: Han, Joo Hyung, Kim, Seung, Jang, Hoon, Kim, So Won, Lee, Min Goo, Koh, Hong, Lee, Ji Hyun
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2015
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Accesso online: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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