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

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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.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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Targeted next-generation seque ...... ase report of a Korean family.

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Targeted next-generation seque ...... ase report of a Korean family.

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type

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Targeted next-generation seque ...... ase report of a Korean family.

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Targeted next-generation seque ...... ase report of a Korean family.

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Targeted next-generation seque ...... ase report of a Korean family.

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Targeted next-generation seque ...... ase report of a Korean family.

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P1476

Targeted next-generation seque ...... ase report of a Korean family.

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P2093

Joonhong Park

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Myungshin Kim

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Soyoung Shin

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Suk Young Park

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Woori Jang

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Yonggoo Kim

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Young Jun Yang

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P2860

Structures of the spectrin-ankyrin interaction binding domains

The structure of the ankyrin-binding site of -spectrin reveals how tandem spectrin-repeats generate unique ligand-binding properties

Molecular basis of red cell membrane disorders

Diagnostic approaches for inherited hemolytic anemia in the genetic era

Hereditary spherocytosis.

Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis.

Disorders of red cell membrane.

Molecular findings among patients referred for clinical whole-exome sequencing.

A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model.

Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.

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e9677

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scholarly article

case report

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10.1097/MD.0000000000009677

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English

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2018-01-01T00:00:00Z

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