Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
about
Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndromeMolecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.Novel Mutation in Bernard-Soulier Syndrome.Cab4b, the first human platelet antigen carried by glycoprotein IX discovered in a context of severe neonatal thrombocytopenia.Spectrum of the mutations in Bernard-Soulier syndrome.Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder.A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations.Diagnosis and Management of Inherited Platelet Disorders.A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report.
P2860
Q21203026-A00CD182-EA9C-4641-8BBE-AB0E6642BD16Q28199669-9A3A3648-FFCA-4B79-8BD1-1CFEECFE1C04Q33372673-8F35D012-D1AF-45AC-950E-E0A57EAF0329Q33393009-E954A57A-C39D-4F9D-8120-BC9B88DF2E0BQ33442233-3E9D256B-A5C7-4EFC-82CB-7A9CD6136961Q38220681-D53F28C8-8662-4DC4-A8C9-1FB60F4FBC4AQ40761183-11B16B64-536D-4B65-9195-D2332F8C4330Q41141842-7A8E7F7A-DD61-45F9-96F9-818BA0C31D7DQ41926876-54D287AF-ED2D-41D5-97A4-222FBB23ACFAQ54977259-F6E0EED5-2834-4C91-BF26-6B5DC2D3F206
P2860
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
@ast
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
@en
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
@nl
type
label
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
@ast
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
@en
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
@nl
prefLabel
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
@ast
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
@en
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
@nl
P2093
P2860
P1476
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
@en
P2093
S Kunishima
Y Tomiyama
P2860
P304
P356
10.1046/J.1365-2141.1999.01733.X
P407
P577
1999-12-01T00:00:00Z