Cargando…

A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment

OBJECTIVES: Congenital dysfibrinogenemia is a rare hereditary disease characterized by normal antigen level but lower function level of fibrinogen. Patients with congenital dysfibrinogenemia usually present as bleeding and/or thrombotic events. In this study, we explored the genetic abnormality and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhou, Jihao, Zhu, Peng, Zhang, Xinyou
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Professional Medical Publications 2017
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648974/ https://www.ncbi.nlm.nih.gov/pubmed/29067075 http://dx.doi.org/10.12669/pjms.334.12828

Ejemplares similares

A family study of congenital dysfibrinogenemia caused by a novel mutation in the FGA gene: A case report
por: Qiao, Yingli, et al.
Publicado: (2020)

Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His
por: Luo, Meiling, et al.
Publicado: (2016)

A novel fibrinogen variant in a Chinese pedigree with congenital dysfibrinogenemia caused by FGA P. Arg38Thr mutation: A case report
por: Cai, Ruimin, et al.
Publicado: (2018)

Pseudohomozygous dysfibrinogenemia
por: Peck, Rachel C., et al.
Publicado: (2021)

Management of congenital dysfibrinogenemia in pregnancy: A challenging patient case
por: Langer, Megan, et al.
Publicado: (2021)

Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitution
por: Park, Eunkyung, et al.
Publicado: (2009)

Heterozygous HTRA1 missense mutation in CADASIL-like family disease
por: Wu, Xiaowei, et al.
Publicado: (2018)

Misdiagnosis of a patient with congenital dysfibrinogenemia: A case report and literature review
por: Chen, Xinyan, et al.
Publicado: (2022)

Acute renal artery infarction secondary to dysfibrinogenemia
por: Keinath, Kyle, et al.
Publicado: (2017)

An FGA Frameshift Variant Associated with Afibrinogenemia in Dachshunds
por: Mischke, Reinhard, et al.
Publicado: (2021)

A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis
por: Wu, Yuan, et al.
Publicado: (2016)

A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy
por: Saxena, D., et al.
Publicado: (2016)

Correction: Acute renal artery infarction secondary to dysfibrinogenemia
Publicado: (2018)

A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease
por: Zhang, Xiaoqing, et al.
Publicado: (2016)

A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
por: Calado, Joaquim, et al.
Publicado: (2005)

Han Chinese family with early‐onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene
por: Huang, Ting, et al.
Publicado: (2019)

Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report
por: He, Ming-Fang, et al.
Publicado: (2021)

Congenital dysfibrinogenemia misdiagnosed and inappropriately treated as acute fatty liver in pregnancy: A case report and review of literature
por: Jia, Yan, et al.
Publicado: (2022)

Interference of Monoclonal Gammopathy with Fibrinogen Assay Producing Spurious Dysfibrinogenemia
por: Martini, Francesca, et al.
Publicado: (2019)

Case Report: Unmasked Inherited Dysfibrinogenemia After Everolimus Therapy
por: Merkulova, Alona A., et al.
Publicado: (2020)

Fibrinogen BOE II: dysfibrinogenemia with bleeding and defective thrombin binding
por: Li, Yang, et al.
Publicado: (2023)

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
por: Zagnoli-Vieira, Guido, et al.
Publicado: (2023)

Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing
por: Zhou, Qi, et al.
Publicado: (2015)

Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors
por: Wu, Yuan, et al.
Publicado: (2019)

Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea
por: Liu, Zhimei, et al.
Publicado: (2019)

PB2642: EVALUATION OF INNOVATIVE LABORATORY TESTS TO PREDICT A THROMBOTIC PHENOTYPE IN A FAMILY WITH DYSFIBRINOGENEMIA AND A NOVEL FGG MUTATION.
por: Monard, Amaury, et al.
Publicado: (2023)

A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family
por: Yi, Zhi, et al.
Publicado: (2022)

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness
por: Zeitz, Christina, et al.
Publicado: (2018)

A Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea
por: Lee, Dong Hun, et al.
Publicado: (2010)

The Relationship between Gene Polymorphism of miRNAs Regulating FGA and Schizophrenia
por: Cao, Bonan, et al.
Publicado: (2019)

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity
por: Liu, Katherine Y., et al.
Publicado: (2018)

Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree
por: Feng, Yuanzheng, et al.
Publicado: (2021)

Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing
por: Jiang, Bo, et al.
Publicado: (2017)

Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)
por: Zhou, Zhou, et al.
Publicado: (2010)

A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy
por: Qin, Yuan-yuan, et al.
Publicado: (2019)

Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene
por: You, Wei, et al.
Publicado: (2022)

A Double Whammy of Mycotic Aneurysms and Acquired Dysfibrinogenemia in a Patient with Septicemia
por: Sim, Chun Yang, et al.
Publicado: (2021)

Association between FGA gene polymorphisms and coronary artery lesion in Kawasaki disease
por: Liu, Xingzhu, et al.
Publicado: (2023)

Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD)
por: VanderVeen, Deborah K., et al.
Publicado: (2011)

A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL
por: Li, Juyi, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_ul8ss5nomgtate8attfc6fcaup