Mosaicism and sporadic haemophilia: implications for carrier determination.
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Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysisGermline and somatic mosaicism in a female carrier of Hunter diseaseHaemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Parental 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.Germ-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 diseaseMaximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiencyReplacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.Molecular analysis of hemophilia A mutations in the Finnish populationHaemophilia: strategies for carrier detection and prenatal diagnosis.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 geneMore than half the sporadic cases of hemophilia A in Sweden are due to a recent mutation.High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.Two de novo factor VIII gene mutations in the family of an isolated severe haemophilia A patient.Mutations in haemophilia A.Some factor VIII exon 14 frameshift mutations cause moderately severe haemophilia A.
P2860
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P2860
Mosaicism and sporadic haemophilia: implications for carrier determination.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年学术文章
@wuu
1989年学术文章
@zh-cn
1989年学术文章
@zh-hans
1989年学术文章
@zh-my
1989年学术文章
@zh-sg
1989年學術文章
@yue
1989年學術文章
@zh
1989年學術文章
@zh-hant
name
Mosaicism and sporadic haemophilia: implications for carrier determination.
@en
Mosaicism and sporadic haemophilia: implications for carrier determination.
@nl
type
label
Mosaicism and sporadic haemophilia: implications for carrier determination.
@en
Mosaicism and sporadic haemophilia: implications for carrier determination.
@nl
prefLabel
Mosaicism and sporadic haemophilia: implications for carrier determination.
@en
Mosaicism and sporadic haemophilia: implications for carrier determination.
@nl
P2093
P1433
P1476
Mosaicism and sporadic haemophilia: implications for carrier determination.
@en
P2093
A De La Chapelle
A E Lehesjoki
B Levinson
J Gitschier
P304
P356
10.1016/S0140-6736(89)91279-8
P407
P577
1989-02-01T00:00:00Z