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In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.A homozygous female hemophilia AIdentification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.Factor VIII Antigen, Activity, and Mutations in Hemophilia A.An uncommon case of a female carrier of two distinct X-linked disorders.Identification of mutations in exon 14 including five novelties in 13 Italian patients with haemophilia A.Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A.Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population.
P2860
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P2860
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2003 nî lūn-bûn
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2003年の論文
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name
Analysis of 18 novel mutations in the factor VIII gene.
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Analysis of 18 novel mutations in the factor VIII gene.
@nl
type
label
Analysis of 18 novel mutations in the factor VIII gene.
@en
Analysis of 18 novel mutations in the factor VIII gene.
@nl
prefLabel
Analysis of 18 novel mutations in the factor VIII gene.
@en
Analysis of 18 novel mutations in the factor VIII gene.
@nl
P2093
P2860
P1476
Analysis of 18 novel mutations in the factor VIII gene.
@en
P2093
Angelo C Molinari
Elio Boeri
Federico Bottini
Maria P Bicocchi
Maura Acquila
Mirella Pasino
Pier G Mori
Tiziana Lanza
P2860
P304
P356
10.1046/J.1365-2141.2003.04494.X
P407
P577
2003-09-01T00:00:00Z