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.

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.

Item
http://www.wikidata.org/entity/Q33370446
Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)Comparison of the gene encoding, and the predicted amino acid composition of, platelet membrane receptor subunit glycoprotein Ibα in members of the family Felidae.Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding.Successful perioperative management for a breast cancer patient with Bernard-Soulier syndrome.Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)Genetics of familial forms of thrombocytopenia.Inherited thrombocytopenias frequently diagnosed in adults.Diagnosis and treatment of inherited thrombocytopenias.Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.Congenital defects of platelet function.Spectrum of the mutations in Bernard-Soulier syndrome.A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis.
P2860

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.

Item
http://www.wikidata.org/entity/Q33370446
description
2006 nî lūn-bûn
@nan
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին 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
Novel heterozygous missense mu ...... thic thrombocytopenic purpura.
@ast
Novel heterozygous missense mu ...... thic thrombocytopenic purpura.
@en
type
label
Novel heterozygous missense mu ...... thic thrombocytopenic purpura.
@ast
Novel heterozygous missense mu ...... thic thrombocytopenic purpura.
@en
prefLabel
Novel heterozygous missense mu ...... thic thrombocytopenic purpura.
@ast
Novel heterozygous missense mu ...... thic thrombocytopenic purpura.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
Novel heterozygous missense mu ...... thic thrombocytopenic purpura.
@en
P2093
P2860
P304
P31
P356
10.1111/J.1600-0609.2005.00612.X
P433
P478
P577
P698
P921