Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.

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Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.

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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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Somatic mosaicism for a SLC2A1 ...... for GLUT1 deficiency syndrome.

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Somatic mosaicism for a SLC2A1 ...... for GLUT1 deficiency syndrome.

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Somatic mosaicism for a SLC2A1 ...... for GLUT1 deficiency syndrome.

@en

Somatic mosaicism for a SLC2A1 ...... for GLUT1 deficiency syndrome.

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Somatic mosaicism for a SLC2A1 ...... for GLUT1 deficiency syndrome.

@en

Somatic mosaicism for a SLC2A1 ...... for GLUT1 deficiency syndrome.

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P1476

Somatic mosaicism for a SLC2A1 ...... for GLUT1 deficiency syndrome.

@en

P2093

C Yonee

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H Oguni

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H Tsuru

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M Matsufuji

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N Sano

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S Takahashi

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P2860

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Glut1 deficiency syndrome and erythrocyte glucose uptake assay.

The spectrum of movement disorders in Glut-1 deficiency.

P304

932-933

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P31

scholarly article

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10.1111/CGE.12902

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P433

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P478

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P577

2017-01-26T00:00:00Z

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28124377

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