A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency-Reference-Cited by-同舟云学术

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A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency

Published:2021-12-30 Issue:2 Volume:24 Page:
ISSN:1099-498X
Container-title:The Journal of Gene Medicine
language:en
Short-container-title:The Journal of Gene Medicine

Author:

Hu Ya‐Nan¹²,Gan Yu‐Mian¹²,Zhang Yan‐Ping¹²,Ruan Dan‐Dan¹²,Zhu Yao‐Bin³,Lin Xin‐Fu¹²,Fang Zhu‐Ting¹²,Liao Li‐Sheng¹²,Tang Fa‐Qiang¹²,Luo Jie‐Wei¹²

Affiliation:

1. Shengli Clinical Medical College of Fujian Medical University Fuzhou Fujian China

2. Fujian Provincial Hospital Fuzhou Fujian China

3. Department of Traditional Chinese Medicine, The First Affiliated Hospital Fujian Medical University Fuzhou Fujian China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgm.3398

Reference42 articles.

1. CONGENITAL SPCA DEFICIENCY: A HITHERTO UNRECOGNIZED COAGULATION DEFECT WITH HEMORRHAGE RECTIFIED BY SERUM AND SERUM FRACTIONS 1

2. An overview of inherited factor VII deficiency

3. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency

4. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders

5. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene

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1. Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report;Molecular Genetics & Genomic Medicine;2024-07

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