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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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Detalles Bibliográficos
Autores principales:	Shin, Soyoung, Jang, Woori, Kim, Myungshin, Kim, Yonggoo, Park, Suk Young, Park, Joonhong, Yang, Young Jun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2018
Materias:	4800
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779785/ https://www.ncbi.nlm.nih.gov/pubmed/29505016 http://dx.doi.org/10.1097/MD.0000000000009677

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