Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations.

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations.

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http://www.wikidata.org/entity/Q40843313
Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIaIdentification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiencyMutations in btk in patients with presumed X-linked agammaglobulinemia.Haemophilia B (sixth edition): a database of point mutations and short additions and deletionsHaemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia AMucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.Enhanced carrier and prenatal diagnosis in the Italian haemophilia B population.The factor IX gene as a model for analysis of human germline mutations: an update.Origin of Swedish hemophilia B mutations.The high frequency of the -6G-->A factor IX promoter mutation is the result both of a founder effect and recurrent mutation at a CpG dinucleotide.Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.Indirect carrier detection of canine haemophilia A using factor VIII microsatellite markers.Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations.Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans.
P2860

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations.

Item
http://www.wikidata.org/entity/Q40843313
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1993 nî lūn-bûn
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1993年の論文
@ja
1993年学术文章
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1993年学术文章
@zh-cn
1993年学术文章
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1993年学术文章
@zh-my
1993年学术文章
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1993年學術文章
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1993年學術文章
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1993年學術文章
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name
Recurrent mutations in the fac ...... d review of de novo mutations.
@en
type
label
Recurrent mutations in the fac ...... d review of de novo mutations.
@en
prefLabel
Recurrent mutations in the fac ...... d review of de novo mutations.
@en
P1433
P1476
P2093
P2888
P304
P31
P356
P433
P478
P577
P6179
P698
P921
P356
P1433
P1476
Recurrent mutations in the fac ...... d review of de novo mutations.
@en
P2093
P2888
P304
P31
P356
P433
P478
P577
P6179
P698
P921