Lung disease associated with filamin A gene mutation: a case report

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Lung Transplantation for FLNA-Associated Progressive Lung Disease.Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification.

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Lung disease associated with filamin A gene mutation: a case report

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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Lung disease associated with filamin A gene mutation: a case report

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Lung disease associated with filamin A gene mutation: a case report

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Lung disease associated with filamin A gene mutation: a case report

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Lung disease associated with filamin A gene mutation: a case report

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Lung disease associated with filamin A gene mutation: a case report

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Lung disease associated with filamin A gene mutation: a case report

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P1476

Lung disease associated with filamin A gene mutation: a case report

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Abdullah Al-Shamrani

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Hussien Bukhamsien

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Khalid Al-Mobaireek

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Khalid S Ahmad

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Mohammed M Al-Balawi

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Safa Eltahir

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Wadha Alotaibi

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P2860

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Clinical features and long term outcome of epilepsy in periventricular nodular heterotopia. Simple compared with plus forms.

Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.

The many faces of filamin: a versatile molecular scaffold for cell motility and signalling.

Periventricular heterotopia.

Physical and functional interaction of filamin (actin-binding protein-280) and tumor necrosis factor receptor-associated factor 2.

Binding of the P2Y2 nucleotide receptor to filamin A regulates migration of vascular smooth muscle cells.

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges.

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scholarly article

case report

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10.1186/S13256-016-0871-1

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English

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2016-04-18T00:00:00Z

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27091362

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4836084

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Lung disease associated with filamin A gene mutation: a case report

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P2860

P2860

Lung disease associated with filamin A gene mutation: a case report

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P577

P698

P932