F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.
Miguel Martín
MM
Abelleyro
Liliana Carmen
LC
Rossetti
María de Los Ángeles
Mde L
Curto
Claudia Pamela
CP
Radic
Vanina Daniela
VD
Marchione
Carlos D. De Brasi, Molecular Genetics of Haemophilia Laboratory, Academia Nacional de Medicina, Pacheco de Melo 3081, Buenos Aires (1425), Argentina, Tel.: +5411 48058803, Ext.: 261, Fax: +5411 4803 9475, E-mail: cdebrasi@hematologia.anm.edu.ar.
Carlos Daniel
CD
De Brasi
D000483:Alleles; D007446:Chromosome Inversion; D005169:Factor VIII / Q000737:chemistry* / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D008040:Genetic Linkage; D005820:Genetic Testing; D005838:Genotype; D006467:Hemophilia A / Q000097:blood* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
D005169:Factor VIII