Deep intronic variant c.5999‐277G>A of F8 gene may be a hot spot mutation for mild hemophilia A patients without mutation in exonic DNA-Reference-Cited by-同舟云学术

Deep intronic variant c.5999‐277G>A of F8 gene may be a hot spot mutation for mild hemophilia A patients without mutation in exonic DNA

Published:2019-05-21 Issue:1 Volume:103 Page:47-55
ISSN:0902-4441
Container-title:European Journal of Haematology
language:en
Short-container-title:Eur J Haematol

Author:

Chang Chia‐Yau¹²,Perng Cherng‐Lih³⁴,Cheng Shin‐Nan⁵⁶⁷,Hu Shu‐Hsia⁵,Wu Tzu‐Ying⁵,Lin Shyr‐Yi¹⁸,Chen Yeu‐Chin⁵⁹^ORCID

Affiliation:

1. School of Medicine, Graduate Institute of Clinical Medicine Taipei Medical University Taipei Taiwan

2. Division of Pediatric Hematology/Oncology, Hemophilia Center Taipei Medical University Hospital Taipei Taiwan

3. Division of Clinical Pathology, Department of Pathology Tri‐Service General Hospital Taipei Taiwan

4. Graduate Institute of Pathology National Defense Medical Center Taipei Taiwan

5. Hemophilia Care and Research Center Tri‐Service General Hospital Taipei Taiwan

6. Department of Pediatrics Tungs' Taichung MetroHarbor Hospital Taichung Taiwan

7. Department of Pediatrics National Defense Medical Center Taipei Taiwan

8. Division of Gastroenterology, Department of Internal Medicine Taipei Medical University Hospital Taipei Taiwan

9. Division of Hematology/Oncology Department of Internal Medicine, Tri‐Service General Hospital National Defense Medical Center Taipei Taiwan

Funder

Tri-Service General Hospital

Publisher

Wiley

Subject

Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ejh.13242

Reference28 articles.

1. RallapalliPM Kemball‐CookG TuddenhamEG GomezK PerkinsSJ.(2014)‐ Manuscript in Preparation. Factor VIII (F8) gene variant database. Available at:http://www.factorviiidb.orgindex.php. Accessed June 25 2018.

2. Evaluation of DHPLC in the analysis of hemophilia A

3. Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

4. Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype

5. Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions

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