Publications:

Genetic causes of haemophilia in women and girls.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Miller, Connie H CH; Bean, Christopher J CJ

Publication Date: 2021-03

Variant appearance in text: F8: 1505T>A

PubMed Link: 33314404

Variant Present in the following documents:

• Main text

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: F8: V502D

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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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: 1505T>A

PubMed Link: 28056528

Variant Present in the following documents:

• Main text

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Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile.

Molecular Medicine Reports

Qiao, Shu-Kai SK; Ren, Han-Yun HY; Ren, Jin-Hai JH; Guo, Xiao-Nan XN

Publication Date: 2014-02

Variant appearance in text: F8: 1505T>A

PubMed Link: 24317041

Variant Present in the following documents:

• Main text
• mmr-09-02-0466.pdf

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