Molecular analysis of hemophilia A mutations in the Finnish population
about
Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysisSomatic mosaicism in hemophilia A: a fairly common event.Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutationDirect 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 diseaseRecurrence risk of a new dominant mutation in children of unaffected parentsCharacterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.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 geneGerm-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.Identical point mutations in the factor VIII gene that have different clinical manifestations of hemophilia A.
P2860
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P2860
Molecular analysis of hemophilia A mutations in the Finnish population
description
1990 nî lūn-bûn
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1990 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Molecular analysis of hemophilia A mutations in the Finnish population
@ast
Molecular analysis of hemophilia A mutations in the Finnish population
@en
type
label
Molecular analysis of hemophilia A mutations in the Finnish population
@ast
Molecular analysis of hemophilia A mutations in the Finnish population
@en
prefLabel
Molecular analysis of hemophilia A mutations in the Finnish population
@ast
Molecular analysis of hemophilia A mutations in the Finnish population
@en
P2093
P2860
P921
P1476
Molecular analysis of hemophilia A mutations in the Finnish population
@en
P2093
Gitschier J
Lehesjoki AE
Levinson B
de la Chapelle A
P2860
P407
P577
1990-01-01T00:00:00Z