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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Detalles Bibliográficos
Autores principales: Han, Joo Hyung, Kim, Seung, Jang, Hoon, Kim, So Won, Lee, Min Goo, Koh, Hong, Lee, Ji Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480973/
https://www.ncbi.nlm.nih.gov/pubmed/26107955
http://dx.doi.org/10.1371/journal.pone.0131251

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480973/
https://www.ncbi.nlm.nih.gov/pubmed/26107955
http://dx.doi.org/10.1371/journal.pone.0131251

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