Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

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Upstream SLC2A1 translation initiation causes 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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2017年学术文章

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2017年学术文章

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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

@en

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

@en

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

@nl

P1476

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

@en

P2093

Bregje W van Bon

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Christian Gilissen

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Erik-Jan Kamsteeg

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Joerg Klepper

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Lisenka Elm Vissers

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Maartje Pennings

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Michael P Kwint

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Michèl A Willemsen

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Ron A Wevers

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Sinje Geuer

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P2860

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Assessing protein coding region integrity in cDNA sequencing projects.

Genome sequencing identifies major causes of severe intellectual disability.

A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation.

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Glut1 deficiency syndrome and erythrocyte glucose uptake assay.

SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

P2888

ejhg.2017.45

P304

771-774

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P31

scholarly article

P356

10.1038/EJHG.2017.45

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P433

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

P478

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

P50

Marcel Verbeek

Joris A Veltman

P577

2017-04-05T00:00:00Z

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P698

28378819

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P932

5477372

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