Direct and indirect gene diagnosis of hemophilia A pedigrees in the Chinese population

Hemophilia A (HA) is an X‑linked recessive hereditary disorder caused by defects in the coagulation factor VIII (FVIII) gene. In order to diagnose patients with presymptomatic HA and carriers, the present study conducted direct gene diagnosis for the common abnormalities in FVIII and subsequently pe...

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Veröffentlicht in:	Molecular medicine reports 2017-10, Vol.16 (4), p.5722-5728
Hauptverfasser:	Cao, Ying, Shen, Luxi, Huang, Rong, Yang, Lingcong, Du, Zhuanyun, Ma, Hua, Zheng, Tianjin, Gu, Haihua, Li, Hongzhi
Format:	Artikel
Sprache:	eng
Schlagworte:	Annealing Care and treatment China Chromosome Inversion Coagulation factor VIII Coagulation factors Deoxyribonucleic acid Diagnosis Disease prevention DNA Enzymes Experiments Factor VIII - genetics Factor VIII deficiency Female Females Gene Duplication Genetic aspects Genetic counseling Genetic Linkage Genetic Markers Genetic screening Genetic testing Genetic Testing - methods Genotypes Haplotypes Hemophilia Hemophilia A - diagnosis Hemophilia A - genetics Hereditary diseases Humans Identification and classification Innovations Linkage analysis Male Males Medical diagnosis Molecular diagnostic techniques Mutation Patients Pedigree Polymerase Chain Reaction Sequence Deletion Short tandem repeats Temperature
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