Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects.
about
Genetic testing in bleeding disordersIdentification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients.Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation.Factor VIII genotype characterization of haemophilia A affected patients with transient and permanent inhibitors: a comprehensive Argentine study of inhibitor risks.Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing.A prevalent CTLA4 missense variant significantly associates with inhibitor development in Argentine patients with severe haemophilia A.Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations.Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR.Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
P2860
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P2860
Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects.
description
2007 nî lūn-bûn
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2007年の論文
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年學術文章
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name
Sixteen novel hemophilia A cau ...... s of severe molecular defects.
@en
Sixteen novel hemophilia A cau ...... s of severe molecular defects.
@nl
type
label
Sixteen novel hemophilia A cau ...... s of severe molecular defects.
@en
Sixteen novel hemophilia A cau ...... s of severe molecular defects.
@nl
prefLabel
Sixteen novel hemophilia A cau ...... s of severe molecular defects.
@en
Sixteen novel hemophilia A cau ...... s of severe molecular defects.
@nl
P2093
P356
P1433
P1476
Sixteen novel hemophilia A cau ...... s of severe molecular defects.
@en
P2093
Carlos D De Brasi
Claudia Pamela Radic
Irene B Larripa
Liliana C Rossetti
Miguel Candela
Miguel de Tezanos Pinto
Raúl Pérez Bianco
P304
P356
10.3324/HAEMATOL.11112
P577
2007-06-01T00:00:00Z