MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.

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http://www.wikidata.org/entity/Q43254065

description

2009 nî lūn-bûn

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2009年の論文

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2009年学术文章

@wuu

2009年学术文章

@zh

2009年学术文章

@zh-cn

2009年学术文章

@zh-hans

2009年学术文章

@zh-my

2009年学术文章

@zh-sg

2009年學術文章

@yue

2009年學術文章

@zh-hant

name

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.

@en

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.

@nl

type

Item

label

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.

@en

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.

@nl

prefLabel

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.

@en

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.

@nl

P1476

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.

@en

P2093

Ana C Glembotsky

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Felisa C Molinas

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Paula G Heller

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Rosana F Marta

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P2860

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).

Myosins: a diverse superfamily.

Description of a novel mutation leading to MYH9-related disease.

P304

598-602

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P31

scholarly article

P356

10.3109/09537100903349620

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P433

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

P478

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

P50

P577

2009-12-01T00:00:00Z

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P698

19860543

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