A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency

Background Hereditary factor VII deficiency (FVIID) is a rare congenital autosomal recessive bleeding disorder. In clinical manifestations, its onset is caused by variant of the F7 gene (NM_019616) with strong heterogeneity. We identified a family with hematuria caused by a novel F7 compound heteroz...

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Veröffentlicht in:The journal of gene medicine 2022-02, Vol.24 (2), p.e3398-n/a
Hauptverfasser: Hu, Ya‐Nan, Gan, Yu‐Mian, Zhang, Yan‐Ping, Ruan, Dan‐Dan, Zhu, Yao‐Bin, Lin, Xin‐Fu, Fang, Zhu‐Ting, Liao, Li‐Sheng, Tang, Fa‐Qiang, Luo, Jie‐Wei
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Sprache:eng
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