Literature DB >> 15921397

The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations.

Olga Fernández-López, José-Raúl García-Lozano, Ramiro Núñez-Vázquez, Rosario Pérez-Garrido, Antonio Núñez-Roldán.   

Abstract

The aim of this study was to analyze the mutation pattern causing hemophilia A in a population from Southern Spain. Mutation analysis identified the mutation in 99 of the 109 unrelated patients enrolled in the Hemophilia Registry from Andalusia. About 54% of non-inversion mutations identified were previously unreported.

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Year:  2005        PMID： 15921397

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


  6 in total

1.  Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?

Authors:  Marta Molina Romero; Alberto Yoldi Chaure; Miguel Gañán Parra; Purificación Navas Bastida; José Luis Del Pico Sánchez; Ángel Vaquero Argüelles; Paloma de la Fuente Vaquero; Juan Pablo Ramírez López; José Antonio Castilla Alcalá
Journal:  J Assist Reprod Genet       Date:  2022-01-29       Impact factor: 3.412

2.  Factor VIII Intron 22 Inversion in Severe Hemophilia A Patients in Palestine.

Authors:  Caesar Mahmoud Abu Arra; Fekri Samarah; Nael Sudqi Abu Hasan
Journal:  Scientifica (Cairo)       Date:  2020-09-25

3.  Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

Authors:  R Santacroce; M Acquila; D Belvini; G Castaldo; I Garagiola; S H Giacomelli; A M Lombardi; B Minuti; F Riccardi; R Salviato; L Tagliabue; E Grandone; M Margaglione
Journal:  J Hum Genet       Date:  2008-01-23       Impact factor: 3.172

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

Authors:  Shu-Kai Qiao; Han-Yun Ren; Jin-Hai Ren; Xiao-Nan Guo
Journal:  Mol Med Rep       Date:  2013-12-04       Impact factor: 2.952

5.  Identification of the Intron 22 and Intron 1 Inversions of the Factor VIII Gene in Iraqi Kurdish Patients With Hemophilia A.

Authors:  Aveen M Raouf Abdulqader; Ali Ibrahim Mohammed; Shwan Rachid; Peyman Ghoraishizadeh; Sarwar Noori Mahmood
Journal:  Clin Appl Thromb Hemost       Date:  2020 Jan-Dec       Impact factor: 2.389

6.  Protein residue network analysis reveals fundamental properties of the human coagulation factor VIII.

Authors:  Tiago J S Lopes; Ricardo Rios; Tatiane Nogueira; Rodrigo F Mello
Journal:  Sci Rep       Date:  2021-06-16       Impact factor: 4.379
  6 in total

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