High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.

Item
http://www.wikidata.org/entity/Q45855091
In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.Haemophilia A: molecular insights.Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.Prenatal diagnosis in haemophilia A: experience of the genetic diagnostic laboratory.In silico analyses of missense mutations in coagulation factor VIII: identification of severity determinants of haemophilia A.Severe and moderate haemophilia A and B in US females.Genotype and phenotype of haemophilia A in Thai patients.DNA microarray analysis for the detection of mutations in hemophilia A.The status of carrier and prenatal diagnosis of haemophilia in China.Computational prediction of phenotype in haemophilia A.Severe hemophilia A due to a 1.3 kb factor VIII gene deletion including exon 24: homologous recombination between 41 bp within an Alu repeat sequence in introns 23 and 24.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.An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A.Mutational Profiles of and in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population
P2860

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.

Item
http://www.wikidata.org/entity/Q45855091
description
2002 nî lūn-bûn
@nan
2002年の論文
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2002年学术文章
@wuu
2002年学术文章
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2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
High throughput mutation scree ...... enotype-phenotype correlation.
@en
High throughput mutation screening of the factor VIII gene
@nl
type
label
High throughput mutation scree ...... enotype-phenotype correlation.
@en
High throughput mutation screening of the factor VIII gene
@nl
prefLabel
High throughput mutation scree ...... enotype-phenotype correlation.
@en
High throughput mutation screening of the factor VIII gene
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
High throughput mutation scree ...... enotype-phenotype correlation.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921