Literature DB >> 18179574

A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect.

P C Winter, H Egan, O McNulty, F G C Jones, J O'Donnell, P V Jenkins.   

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Year:  2007        PMID： 18179574     DOI： 10.1111/j.1365-2516.2007.01639.x

Source DB:  PubMed          Journal:  Haemophilia        ISSN： 1351-8216            Impact factor:   4.287


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  4 in total

1.  Live kidney donation from a person with haemophilia.

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Journal:  BMJ Case Rep       Date:  2015-12-01

2.  Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A.

Authors:  Hiroshi Inaba; Keiko Shinozawa; Ikuo Seita; Manabu Otaki; Takashi Suzuki; Takeshi Hagiwara; Kagehiro Amano; Katsuyuki Fukutake
Journal:  Int J Hematol       Date:  2013-04-27       Impact factor: 2.490

3.  Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.

Authors:  Yohann Jourdy; Alexandre Janin; Mathilde Fretigny; Anne Lienhart; Claude Négrier; Dominique Bozon; Christine Vinciguerra
Journal:  Am J Hum Genet       Date:  2018-01-18       Impact factor: 11.025

4.  A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect.

Authors:  Isabella Garagiola; Sabrina Seregni; Mimosa Mortarino; Maria Elisa Mancuso; Maria Rosaria Fasulo; Lucia Dora Notarangelo; Flora Peyvandi
Journal:  Mol Genet Genomic Med       Date:  2015-12-14       Impact factor: 2.183
  4 in total

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