Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.
about
Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.The organizing principle of the platelet glycoprotein Ib-IX-V complex.Spectrum of the mutations in Bernard-Soulier syndrome.Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.A diagnostic dilemma: variant Bernard-Soulier syndrome, a difficult clinical and genetic diagnosis.
P2860
Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.
description
2006 nî lūn-bûn
@nan
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Molecular genetic analysis of ...... glycoprotein Ibbeta mutations.
@ast
Molecular genetic analysis of ...... glycoprotein Ibbeta mutations.
@en
type
label
Molecular genetic analysis of ...... glycoprotein Ibbeta mutations.
@ast
Molecular genetic analysis of ...... glycoprotein Ibbeta mutations.
@en
prefLabel
Molecular genetic analysis of ...... glycoprotein Ibbeta mutations.
@ast
Molecular genetic analysis of ...... glycoprotein Ibbeta mutations.
@en
P2093
P2860
P1476
Molecular genetic analysis of ...... glycoprotein Ibbeta mutations.
@en
P2093
Hidehiko Saito
Masahiro Sako
Motohiro Hamaguchi
Shinji Kunishima
Tomio Yamazaki
P2860
P304
P356
10.1111/J.0902-4441.2006.T01-1-EJH2817.X
P577
2006-09-15T00:00:00Z