Novel mutations associated with pyruvate kinase deficiency in Brazil.

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The interpretation of rare or novel variants: damaging vs. disease-causing.Pyruvate kinase deficiency: novel mutations and a better understanding of the genotype-to-phenotype correlation in Brazilian patients.

P2860

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Novel mutations associated with pyruvate kinase deficiency in Brazil.

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http://www.wikidata.org/entity/Q52666109

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Novel mutations associated with pyruvate kinase deficiency in Brazil.

@en

Novel mutations associated with pyruvate kinase deficiency in Brazil.

@nl

type

Item

label

Novel mutations associated with pyruvate kinase deficiency in Brazil.

@en

Novel mutations associated with pyruvate kinase deficiency in Brazil.

@nl

prefLabel

Novel mutations associated with pyruvate kinase deficiency in Brazil.

@en

Novel mutations associated with pyruvate kinase deficiency in Brazil.

@nl

P1476

Novel mutations associated with pyruvate kinase deficiency in Brazil.

@en

P2093

Ana Paula Hitomi Yokoyama

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

Andrey Santos

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

Fernando Ferreira Costa

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

Isis Quezado Magalhães

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

Jhonathan Angel Araujo Fernandez

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

Maria Carolina Costa Melo Svidnicki

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Paulo Augusto Achucarro Silveira

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Sara Teresinha Olalla Saad

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Silvia Regina Brandalise

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Vitoria Regia Pereira Pinheiro

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P2860

Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia

Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia

Analysis of protein-coding genetic variation in 60,706 humans

Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia

A method and server for predicting damaging missense mutations

Erythrocyte pyruvate kinase deficiency: 2015 status report

SIFT: Predicting amino acid changes that affect protein function

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

Sting_RDB: a relational database of structural parameters for protein analysis with support for data warehousing and data mining.

Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.

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5-11

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scholarly article

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10.1016/J.BJHH.2017.08.007

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2017-11-26T00:00:00Z

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29519373

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P921

An Bhrasaíl

P932

6003125

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Novel mutations associated with pyruvate kinase deficiency in Brazil.

about

P2860

P2860

Novel mutations associated with pyruvate kinase deficiency in Brazil.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P921

P932