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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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Bibliografske podrobnosti
izdano v:PLoS One
Main Authors: Han, Joo Hyung, Kim, Seung, Jang, Hoon, Kim, So Won, Lee, Min Goo, Koh, Hong, Lee, Ji Hyun
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2015
Teme:
Online dostop: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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