Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family

RATIONALE: Hereditary spherocytosis (HS) is an inherited disorder characterized by the presence of spherical-shaped red blood cells (RBCs) on the peripheral blood (PB) smear. To date, a number of mutations in 5 genes have been identified and the mutations in SPTB gene account for about 20% patients....

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Medicine (Baltimore)
Asıl Yazarlar: Shin, Soyoung, Jang, Woori, Kim, Myungshin, Kim, Yonggoo, Park, Suk Young, Park, Joonhong, Yang, Young Jun
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer Health 2018
Konular:
4800
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5779785/
https://ncbi.nlm.nih.gov/pubmed/29505016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000009677
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