Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
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Altered cytoskeleton organization in platelets from patients with MYH9-related diseaseMutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic functionIdentification of gene fusions from human lung cancer mass spectrometry dataDetection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.First description of somatic mosaicism in MYH9 disorders.Genotype-phenotype correlation in MYH9-related thrombocytopenia.Giant platelet syndrome.An inherited macrothrombocytopenic disorder with abnormal large granules.Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations.Pitfalls in the diagnosis of immune thrombocytopenic purpura in children: 4 case reports.Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders.MYH-9 Related Platelet Disorders: Strategies for Management and DiagnosisRenal manifestations of patients with MYH9-related disorders.May-Hegglin anomaly in a dog.Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicityA Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomalyClinical, pathological, and genetic analysis of ten patients with MYH9-related disease.Bone marrow morphology and disease progression in congenital thrombocytopenia: a detailed clinicopathologic and genetic study of eight cases.Precipitation of kidney myosin IIA and IIB by freezing.Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.Molecular characterization of mouse lens epithelial cell lines and their suitability to study RNA granules and cataract associated genesWhat is the role of genetic testing in the investigation of patients with suspected platelet function disorders?MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts.
P2860
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P2860
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Identification of six novel MY ...... nia with leukocyte inclusions.
@ast
Identification of six novel MY ...... nia with leukocyte inclusions.
@en
type
label
Identification of six novel MY ...... nia with leukocyte inclusions.
@ast
Identification of six novel MY ...... nia with leukocyte inclusions.
@en
prefLabel
Identification of six novel MY ...... nia with leukocyte inclusions.
@ast
Identification of six novel MY ...... nia with leukocyte inclusions.
@en
P2093
P356
P1476
Identification of six novel MY ...... nia with leukocyte inclusions.
@en
P2093
Kunishima S
Matsumoto K
P2888
P304
P356
10.1007/S100380170007
P577
2001-01-01T00:00:00Z