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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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Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: Han, Joo Hyung, Kim, Seung, Jang, Hoon, Kim, So Won, Lee, Min Goo, Koh, Hong, Lee, Ji Hyun
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2015
Gaiak:
Sarrera elektronikoa: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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