Publications:

Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.

Research And Practice In Thrombosis And Haemostasis

Inaba, Hiroshi H; Shinozawa, Keiko K; Amano, Kagehiro K; Fukutake, Katsuyuki K

Publication Date: 2017-10

Variant appearance in text: F8: 4380delT; Asn1460Lysfs*5

PubMed Link: 30046696

Variant Present in the following documents:

• Main text
• RTH2-1-264.pdf

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Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis

Guo, Zhiping Z; Yang, Linhua L; Qin, Xiuyu X; Liu, Xiue X; Zhang, Yaofang Y

Publication Date: 2018-01

Variant appearance in text: FVIII: 4380delT

PubMed Link: 28056528

Variant Present in the following documents:

• Main text

View BVdb publication page