A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report.

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A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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A point mutation in Phe71Ser i ...... Soulier syndrome: case report.

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A point mutation in Phe71Ser i ...... Soulier syndrome: case report.

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Item

label

A point mutation in Phe71Ser i ...... Soulier syndrome: case report.

@en

A point mutation in Phe71Ser i ...... Soulier syndrome: case report.

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A point mutation in Phe71Ser i ...... Soulier syndrome: case report.

@en

A point mutation in Phe71Ser i ...... Soulier syndrome: case report.

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P1476

A point mutation in Phe71Ser i ...... Soulier syndrome: case report.

@en

P2093

Bilqis A Albarakati

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Ghaida B Alahmadi

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Ibrahim Al-Harbi

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Shahad M Aldor

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P2860

Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)

Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome

Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome

Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome

A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome

Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX

Bernard-Soulier syndrome: an inherited platelet disorder

Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome

A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV

Inherited giant platelet disorders. Classification and literature review.

P304

686-689

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P31

scholarly article

case report

P356

10.1002/CCR3.1427

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P433

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P478

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P50

Imtinan K Alsahafi

P577

2018-02-27T00:00:00Z

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P698

29636940

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P932

5889233

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