Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex
about
Identification of three tyrosine residues of glycoprotein Ib alpha with distinct roles in von Willebrand factor and alpha-thrombin bindingBiosynthesis and intracellular post-translational processing of normal and mutant platelet glycoprotein GPIb-IXA case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding.Myocardial infarction in two cousins heterozygous for ASN41HIS autosomal dominant variant of Bernard-Soulier syndrome.Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.Parsing the repertoire of GPIb-IX-V disorders.Spectrum of the mutations in Bernard-Soulier syndrome.Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis.Lentiviral gene rescue of a Bernard-Soulier mouse model to study platelet glycoprotein Ibβ function.Diagnosis and Management of Inherited Platelet Disorders.High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders.Binding of thrombin to the G-protein-linked receptor, and not to glycoprotein Ib, precedes thrombin-mediated platelet activation.
P2860
Q24314966-C262979A-650E-487E-87FD-14C9DD03FC16Q28346370-64951FFE-25F4-48DF-A70A-5D9AF6A372D7Q33381163-C4C3D079-35EA-4D06-8332-BF2538108BA9Q33401125-895592A6-0112-49DA-9B8C-5C63EBDDFE54Q33901407-1EE3938A-5378-4645-810D-CA339C0FDE3EQ37609911-0FB1B1F8-A584-43B7-BF91-7AC8B9BB0944Q38220681-100F856E-0A80-4BBE-9A60-CC39F3643C95Q39033939-CAE489D6-2DD0-4095-83F8-94E0E9805259Q39646463-BF06568A-2A06-404A-8546-6D7D8076FE99Q40767916-4C943194-1A8F-42AC-9668-956D58DF3F97Q41926876-7EAA4759-6847-4217-8FBC-5E8201FED299Q48186734-4E7E25E1-4DC6-4BCB-9009-2D6FEF0768FFQ54190761-69D691DB-1DD8-4AC1-BEDA-30D8857AF04A
P2860
Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex
description
1990 nî lūn-bûn
@nan
1990 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Variant Bernard-Soulier syndro ...... let glycoprotein Ib-IX complex
@ast
Variant Bernard-Soulier syndro ...... let glycoprotein Ib-IX complex
@en
Variant Bernard-Soulier syndro ...... let glycoprotein Ib-IX complex
@nl
type
label
Variant Bernard-Soulier syndro ...... let glycoprotein Ib-IX complex
@ast
Variant Bernard-Soulier syndro ...... let glycoprotein Ib-IX complex
@en
Variant Bernard-Soulier syndro ...... let glycoprotein Ib-IX complex
@nl
prefLabel
Variant Bernard-Soulier syndro ...... let glycoprotein Ib-IX complex
@ast
Variant Bernard-Soulier syndro ...... let glycoprotein Ib-IX complex
@en
Variant Bernard-Soulier syndro ...... let glycoprotein Ib-IX complex
@nl
P2093
P2860
P356
P1476
Variant Bernard-Soulier syndro ...... let glycoprotein Ib-IX complex
@en
P2093
A Girolami
L De Marco
M Mazzucato
Z M Ruggeri
P2860
P356
10.1172/JCI114692
P407
P577
1990-07-01T00:00:00Z