A somatic mosaic for haemophilia A detected at the DNA level.
about
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disordersGerminal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutationsSex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysisSomatic mosaicism in hemophilia A: a fairly common event.Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutationParental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia AGerm-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand diseaseGerminal mosaicism and risk calculation in X-linked diseases.Molecular analysis of hemophilia A mutations in the Finnish populationIdentification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene
P2860
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P2860
A somatic mosaic for haemophilia A detected at the DNA level.
description
1988 nî lūn-bûn
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1988年の論文
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1988年学术文章
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1988年学术文章
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1988年学术文章
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1988年学术文章
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1988年学术文章
@zh-sg
1988年學術文章
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1988年學術文章
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1988年學術文章
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name
A somatic mosaic for haemophilia A detected at the DNA level.
@en
A somatic mosaic for haemophilia A detected at the DNA level.
@nl
type
label
A somatic mosaic for haemophilia A detected at the DNA level.
@en
A somatic mosaic for haemophilia A detected at the DNA level.
@nl
prefLabel
A somatic mosaic for haemophilia A detected at the DNA level.
@en
A somatic mosaic for haemophilia A detected at the DNA level.
@nl
P2093
P1476
A somatic mosaic for haemophilia A detected at the DNA level
@en
P2093
P577
1988-02-01T00:00:00Z