A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia.
about
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.Glanzmann thrombasthenia: state of the art and future directions.L718P mutation in the membrane-proximal cytoplasmic tail of beta 3 promotes abnormal alpha IIb beta 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotypeGlanzmann's thrombasthenia: an overview.Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche familiesTranslating from the rivers of Babylon to the coronary bloodstreamSplice site, frameshift, and chimeric GFAP mutations in Alexander diseaseUnderstanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?A mutation in the β3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of αIIb β3 to an active state.Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent.Novel mutations in Thai patients with glanzmann thrombasthenia.Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients.
P2860
Q33421611-A1EB8A94-51F3-4281-B5B4-478CBCC97762Q33571529-4FA13C2B-25E0-4373-8637-6F2D575CA65FQ33952812-8537E580-449E-4EE9-9508-DD2ED2B038A3Q34859954-4937E1CB-019A-4BB3-941B-08F9296E9C40Q35230088-054CEB7C-FA04-4A33-BC20-1BC40C905C72Q36357988-314B3C51-147E-4837-A198-F0091275D514Q36908708-8A1B3F99-9FA2-4AFC-BF22-5B8EF43C4688Q38059249-67E37D27-4512-42A2-971A-129DBA85E6E7Q38183490-1FC1C156-DDF2-4C29-9882-CFA9B22708E0Q39434031-158C28CB-5AF8-406E-9D39-C71539BCDFE0Q47863758-8C55BA84-4F4D-4DB9-9CA5-AE23EC948E69Q48099018-469033EB-AAA1-46A8-A492-FAA3578BE6D5Q49155547-5AC1D695-921E-4807-A229-CBEC18B96D50Q53393838-A42766DD-4DA3-4057-BDE6-269F15856CE2Q54589751-F12AC308-5B62-4B4A-A1FD-522B095219E9
P2860
A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
A 13-bp deletion in alpha(IIb) ...... with Glanzmann thrombasthenia.
@en
type
label
A 13-bp deletion in alpha(IIb) ...... with Glanzmann thrombasthenia.
@en
prefLabel
A 13-bp deletion in alpha(IIb) ...... with Glanzmann thrombasthenia.
@en
P2093
P2860
P1476
A 13-bp deletion in alpha(IIb) ...... with Glanzmann thrombasthenia.
@en
P2093
B S Coller
B Shenkman
H Hauschner
N Rosenberg
R Mor-Cohen
U Seligsohn
P2860
P304
P356
10.1111/J.1538-7836.2005.01618.X
P577
2005-12-01T00:00:00Z