Clinical Characteristics of Autosomal Dominant Giant Platelet Syndromes and Mutation Analysis of MYH9-Reference-Cited by-同舟云学术

Clinical Characteristics of Autosomal Dominant Giant Platelet Syndromes and Mutation Analysis of MYH9

Published:2006 Issue:1 Volume:41 Page:16
ISSN:1738-7949
Container-title:The Korean Journal of Hematology
language:ko
Short-container-title:Korean J Hematol

Author:

Kook Hoon¹²,Nam Ho Song¹²,Baek Hee Jo¹²,Kim Young Ok¹²,Eom Gwang Hyeon³²,Kee Hae Jin³²,Cho Duck⁴²,Shin Myung-Geun⁴²,Lee Je Jung⁵²,Kim Hyeoung Joon⁵²,Kook Hyun³²,Hwang Tai Ju¹²

Affiliation:

1. Department of Pediatrics, Chonnam National University Hwasun Hospital, Gwangju, Korea.

2. Medical Research Center for Gene Regulation, Chonnam National University Medical School, Gwangju, Korea.

3. Department of Pharmacology, Chonnam National University Hwasun Hospital, Gwangju, Korea.

4. Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Gwangju, Korea.

5. Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Korea.

Publisher

The Korean Society of Hematology

Subject

Hematology

Link

https://synapse.koreamed.org/pdf/10.5045/kjh.2006.41.1.16

Reference34 articles.

1. Inherited Giant Platelet Disorders

2. Immunofluorescence Analysis of Neutrophil Nonmuscle Myosin Heavy Chain-A in MYH9 Disorders: Association of Subcellular Localization with MYH9 Mutations

3. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

4. Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia

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2. Genetic classification and confirmation of inherited platelet disorders: current status in Korea;Clinical and Experimental Pediatrics;2020-03-15

3. Frequently Delayed Diagnosis and Misdiagnosis in MYH9-related Disorders: Data from Genetically Confirmed Cases of Korean Patients;Laboratory Medicine Online;2019

4. A Case of Myosin-heavy-chain-9 (MYH9) Gene Mutation Confirmed May-Hegglin Anomaly: 11-year Follow-up;Clinical Pediatric Hematology-Oncology;2016-10-31

5. Giant platelet syndrome;Korean Journal of Pediatrics;2006