Myopathy in the York Platelet Syndrome: An Underrecognized Complication

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Myopathy in the York Platelet Syndrome: An Underrecognized Complication

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scientific article published on 12 August 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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name

Myopathy in the York Platelet Syndrome: An Underrecognized Complication

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Myopathy in the York Platelet Syndrome: An Underrecognized Complication

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Item

label

Myopathy in the York Platelet Syndrome: An Underrecognized Complication

@en

Myopathy in the York Platelet Syndrome: An Underrecognized Complication

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Myopathy in the York Platelet Syndrome: An Underrecognized Complication

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Myopathy in the York Platelet Syndrome: An Underrecognized Complication

@nl

P1476

Myopathy in the York Platelet Syndrome: An Underrecognized Complication

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P2093

Joy Roman

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Michael I Palmer

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Nicholas E Johnson

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Russell J Butterfield

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P2860

Structural and mechanistic insights into STIM1-mediated initiation of store-operated calcium entry

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

The York Platelet Syndrome: a third case.

Stormorken syndrome or York platelet syndrome: A clinician's dilemma.

P304

5130143

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P31

scholarly article

case report

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10.1155/2018/5130143

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P407

English

P478

2018

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P50

Cheryl Ann Palmer

P577

2018-08-12T00:00:00Z

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30159190

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6109526

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