Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.

Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.

Item
http://www.wikidata.org/entity/Q45882461
In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.Haemophilia A: molecular insights.Severe Hemophilia A in a Male Old English Sheep Dog with a C→T Transition that Created a Premature Stop Codon in Factor VIII.In silico analyses of missense mutations in coagulation factor VIII: identification of severity determinants of haemophilia A.DNA microarray analysis for the detection of mutations in hemophilia A.Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity.Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.The molecular aetiology of haemophilia A in a New Zealand patient group.Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity.Method validation and clinical utility of chromogenic factor VIII assay compared to one-stage assay.Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.
P2860

Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.

Item
http://www.wikidata.org/entity/Q45882461
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Mutation analysis in 51 patien ...... notype and clinical phenotype.
@en
Mutation analysis in 51 patien ...... notype and clinical phenotype.
@nl
type
label
Mutation analysis in 51 patien ...... notype and clinical phenotype.
@en
Mutation analysis in 51 patien ...... notype and clinical phenotype.
@nl
prefLabel
Mutation analysis in 51 patien ...... notype and clinical phenotype.
@en
Mutation analysis in 51 patien ...... notype and clinical phenotype.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
Mutation analysis in 51 patien ...... notype and clinical phenotype.
@en
P2093
P2860
P304
P31
P356
10.1111/J.1365-2516.2005.01069.X
P433
P478
P577
P698
P921