A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome.

Abdul Shlebak,Anthony Poles,Richard Manning,Shaikha Almuhareb,Josu De La Funte,Mike Mitchell,Geoff Lucas

A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome.

2015

Abdul Shlebak
Anthony Poles
Richard Manning
Shaikha Almuhareb
Josu De La Funte
Mike Mitchell
Geoff Lucas

Background: Bernard-Soulier syndrome (BSS) is a congenital bleeding disorder characterised by thrombocytopenia, giant platelets and decreased platelet adhesion re

Keywords:

Immunology
Exon
Diabetes mellitus
GP1BA
Medicine
Bernard–Soulier syndrome
Platelet
Platelet glycoprotein Ib-Ix
Congenital Bleeding Disorder
Giant platelets
platelet adhesion
novel mutation

Correction
Source
Cite
Save
Machine Reading By IdeaReader

References

Citations