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

Hemophilia A is a heterogeneous hemorrhagic disorder caused by a large number of mutations. Recurrent mutations are rare, except intron 22 and intron 1 inversions. The substitution of a cytosine to a thymine at nucleotide 6046 in F8 gene was identified in a group of Italian patients affected by hemo...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Garagiola, Isabella, Seregni, Sabrina, Mortarino, Mimosa, Mancuso, Maria Elisa, Fasulo, Maria Rosaria, Notarangelo, Lucia Dora, Peyvandi, Flora
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2015
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4799873/
https://ncbi.nlm.nih.gov/pubmed/27066508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.189
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