Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations-Reference-Cited by-同舟云学术

Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations

Published:2020-09 Issue:11 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Huang Limin¹^ORCID,Li Liyan²,Lin Sheng³,Chen Juanjuan¹,Li Kun¹,Fan Dongmei¹,Jin Wangjie²,Li Yihong²,Yang Xu⁴^ORCID,Xiong Yufeng⁵,Li Fenxia²,Yang Xuexi¹,Li Ming¹,Li Qiang⁶

Affiliation:

1. Institute of Antibody Engineering School of Laboratory Medicine and Biotechnology Southern Medical University Guangzhou China

2. Technology Center of Prenatal Diagnosis and Genetic Diseases Diagnosis, Department of Gynecology and Obstetrics Nanfang HospitalSouthern Medical University Guangzhou China

3. Laboratory of Molecular Medicine Shenzhen Health Development Research Center Shenzhen China

4. Clinical Innovation & Research Center (CIRC) Shenzhen Hospital of Southern Medical University Shenzhen China

5. Department of Clinical Laboratory Guangdong Women and Children Hospital Guangzhou China

6. The Department of Laboratory Medicine Nanfang HospitalSouthern Medical University Guangzhou China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1482

Reference30 articles.

1. A method and server for predicting damaging missense mutations

2. Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene

3. Molecular genotyping of the Italian cohort of patients with hemophilia B;Belvini D.;Haematologica,2005

4. Haemophilias A and B

5. Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China

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