A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.

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Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.

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P2860

A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.

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2014 nî lūn-bûn

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2014年学术文章

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A Novel Mutation of the GNE Ge ...... les: A Case with Inflammation.

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A Novel Mutation of the GNE Ge ...... les: A Case with Inflammation.

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A Novel Mutation of the GNE Ge ...... les: A Case with Inflammation.

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P1476

A Novel Mutation of the GNE Ge ...... les: A Case with Inflammation.

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P2093

Chanin Limwongse

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Jantima Tanboon

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

Kanjana Rongsa

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

Kanokwan Boonyapisit

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Tumtip Sangruchi

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P2860

A method and server for predicting damaging missense mutations

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

Hereditary inclusion body myopathy: a decade of progress

Hereditary inclusion body myopathy: the Middle Eastern genetic cluster

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.

Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.

Primary muscle diseases in Thammasat University Hospital: muscle biopsy study of 12 cases.

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.

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55-59

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scholarly article

case report

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10.1159/000360730

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P478

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Manop Pithukpakorn

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2014-01-01T00:00:00Z

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261409664

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24707269

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inflammation

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3975748

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A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.

about

P2860

P2860

A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P932