Usefulness of anin vitrocellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in theF8gene in women with isolated factor VIII:C deficiency-Reference-Cited by-同舟云学术

Usefulness of anin vitrocellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in theF8gene in women with isolated factor VIII:C deficiency

Published:2015-02-24 Issue:3 Volume:21 Page:e202-e209
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Roualdes O.¹²,Nougier C.¹²,Fretigny M.¹,Talagrand E.¹,Durand B.³,Negrier C.¹²,Vinciguerra C.¹²

Affiliation:

1. Hospices Civils de Lyon; Hôpital Edouard Herriot; Service d'Hématologie Biologique; Lyon

2. EAM 4174 Hémostase; Inflammation et Sepsis; Université Claude Bernard Lyon 1; Lyon

3. Hospices Civils de Lyon; Hôpital de la Croix Rousse; Laboratoire d'Hématologie Biologique; Lyon

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12651/fullpdf

Reference43 articles.

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3. Carriers and noncarriers of haemophilia A. Evaluation of bleeding symptoms registered by a self-administered questionnaire with binary (no/yes) questions;Wahlberg;Thromb Res,1982

4. Bleeding in carriers of hemophilia;Plug;Blood,2006

5. Carriers and noncarriers of haemophilia A: I. Multivariate analysis of pedigree data, screening blood coagulation tests and factor VIII variables;Wahlberg;Thromb Res,1982

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1. The Possible Non-Mutational Causes of FVIII Deficiency: Non-Coding RNAs and Acquired Hemophilia A;Frontiers in Medicine;2021-04-15

2. Functional identification of factor VIII B domain regions in hepatocyte cells;Biochemical and Biophysical Research Communications;2020-06

3. Splicing analysis of 26 F8 nucleotide variations using a minigene assay;Haemophilia;2019-01-28

4. Application of Indirect Linkage Analysis for Carrier Detection of Hemophilia A in Kurdistan Region of Iraq: Usefulness of Intron 18 BclI T>A, Intron 19 HindIII C>T, and IVS7 nt27 G>A Markers;Clinical and Applied Thrombosis/Hemostasis;2019-01-01

5. Carriers of Hemophilia A and Hemophilia B;Inherited Bleeding Disorders in Women 2e;2018-11-19