title: Severe female hemophilia A patient caused by a nonsense mutation (p.Gln1686X) of F8 gene combined with skewed X-chromosome inactivation.
authors.affiliation: aLaboratory for Gynecology and Obstetrics, The People's Hospital of Wenzhou bDepartment of Hematology, The People's Hospital of Wenzhou cDepartment of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.
authors.forename: Jiayong
authors.initials: J
authors.lastname: Zheng
authors.forename: Weide
authors.initials: W
authors.lastname: Ma
authors.forename: Bingshou
authors.initials: B
authors.lastname: Xie
authors.forename: Miaoyong
authors.initials: M
authors.lastname: Zhu
authors.forename: Chenhui
authors.initials: C
authors.lastname: Zhang
authors.forename: Jianxin
authors.initials: J
authors.lastname: Li
authors.forename: Yingyu
authors.initials: Y
authors.lastname: Wang
authors.forename: Mingshan
authors.initials: M
authors.lastname: Wang
authors.forename: Yanhui
authors.initials: Y
authors.lastname: Jin
mesh_terms: D002648:Child; D018389:Codon, Nonsense; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D059785:Karyotype; D010375:Pedigree; D035781:Siblings; D049951:X Chromosome Inactivation
chemical_list: D018389:Codon, Nonsense; D005169:Factor VIII