Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder.

Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder.

Item
http://www.wikidata.org/entity/Q40761183
Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimeraSynthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura.Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)Inherited thrombocytopenias frequently diagnosed in adults.Congenital macrothrombocytopenia is a heterogeneous disorder in India.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 new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia.A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia
P2860

Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder.

Item
http://www.wikidata.org/entity/Q40761183
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh
2001年學術文章
@zh-hant
name
Novel heterozygous missense mu ...... lated giant platelet disorder.
@en
type
label
Novel heterozygous missense mu ...... lated giant platelet disorder.
@en
prefLabel
Novel heterozygous missense mu ...... lated giant platelet disorder.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P356
P1433
P1476
Novel heterozygous missense mu ...... lated giant platelet disorder.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698