[Genetic diagnosis and bioinformatic analysis of a pedigree with inherited factor VII deficiency]

scientific article published on 01 February 2015

[Genetic diagnosis and bioinformatic analysis of a pedigree with inherited factor VII deficiency] is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.3760/CMA.J.ISSN.0253-2727.2015.02.018
P932PMC publication ID7342163
P698PubMed publication ID25778897

P2093author name stringYaofang Zhang
Ruihong Wu
Jianli Guo
Linhua Yang
Xiue Liu
Xiuyu Qin
Zhiping Guo
P2860cites workNucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulationQ22254871
The coagulation cascade: initiation, maintenance, and regulationQ28610148
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithmQ29547194
GRASP2: visualization, surface properties, and electrostatics of macromolecular structures and sequencesQ33196267
Nonsense-mediated mRNA decay modulates clinical outcome of genetic diseaseQ36498954
Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based toolsQ38090602
Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 geneQ45107661
Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis.Q53895712
Factor VII DeficiencyQ55982216
Inherited factor VII deficiency: molecular genetics and pathophysiologyQ73447334
Twenty two novel mutations of the factor VII gene in factor VII deficiencyQ73912612
Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)--detection of a novel candidate type 2N mutation: C2810T (R854W)Q74823504
Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patientsQ80557117
P433issue2
P921main subjectfactor VII deficiencyQ18555032
P304page(s)163-165
P577publication date2015-02-01
P1433published inChinese Journal of HematologyQ27714364
P1476title[Genetic diagnosis and bioinformatic analysis of a pedigree with inherited factor VII deficiency]
P478volume36

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