Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

about

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

Item

http://www.wikidata.org/entity/Q51747141

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

@en

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

@nl

type

Item

label

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

@en

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

@nl

prefLabel

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

@en

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

@nl

P1476

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

@en

P2093

Aiqiu Wei

http://www.w3.org/2001/XMLSchema#string

Faquan Lin

http://www.w3.org/2001/XMLSchema#string

Jinqiu Qin

http://www.w3.org/2001/XMLSchema#string

Lin Liao

http://www.w3.org/2001/XMLSchema#string

Shiyue Ma

http://www.w3.org/2001/XMLSchema#string

Xiaohong Li

http://www.w3.org/2001/XMLSchema#string

Yuanyuan Qin

http://www.w3.org/2001/XMLSchema#string

P2860

Red cell membrane disorders

Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins

Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane

Mass spectrometric identification of proteins from silver-stained polyacrylamide gel: a method for the removal of silver ions to enhance sensitivity.

Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site.

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans

Disorders of red cell membrane.

Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis.

Hereditary elliptocytosis: spectrin and protein 4.1R.

P304

5903-5911

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.3892/MMR.2018.8632

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2018-02-26T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

29484404

http://www.w3.org/2001/XMLSchema#string

P932

5866036

http://www.w3.org/2001/XMLSchema#string