Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles.
about
Clinical and laboratory approaches to hemophilia aThe Bleeding Assessment Tool and laboratory data in the characterisation of a female with inherited haemophilia A.Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRMSevere and moderate haemophilia A and B in US females.Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.A hemophilic son of a hemophiliac: did my son inherit my hemophilia?Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner's syndrome.Haemoperitoneum in a female patient with haemophilia A caused by a ruptured ovarian follicle.Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.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.Intracranial Bleeding In A Female Hemophilia Patient: Molecular Analysis of Factor 8 Gene And Determination of A Novel Mutation.
P2860
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P2860
Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Female haemophiliac homozygous ...... ne of the factor VIII alleles.
@en
Female haemophiliac homozygous ...... ne of the factor VIII alleles.
@nl
type
label
Female haemophiliac homozygous ...... ne of the factor VIII alleles.
@en
Female haemophiliac homozygous ...... ne of the factor VIII alleles.
@nl
prefLabel
Female haemophiliac homozygous ...... ne of the factor VIII alleles.
@en
Female haemophiliac homozygous ...... ne of the factor VIII alleles.
@nl
P2093
P1433
P1476
Female haemophiliac homozygous ...... one of the factor VIII alleles
@en
P2093
P304
P356
10.1046/J.1365-2516.2003.00704.X
P50
P577
2003-01-01T00:00:00Z