Maternal duplication associated with gene deletion in sporadic hemophilia.
about
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiencyGenetic mosaics and the germ line lineageGerminal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutationsSex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysisComplete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociGerm-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation1992 American Society of Human Genetics presidential address: back to the future.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.Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.Molecular analysis of hemophilia A mutations in the Finnish populationGerm-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlationAlpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exonsHaemophilia: strategies for carrier detection and prenatal diagnosis.Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndromeSomatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresisHaemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene
P2860
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P2860
Maternal duplication associated with gene deletion in sporadic hemophilia.
description
1988 nî lūn-bûn
@nan
1988 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Maternal duplication associated with gene deletion in sporadic hemophilia.
@ast
Maternal duplication associated with gene deletion in sporadic hemophilia.
@en
type
label
Maternal duplication associated with gene deletion in sporadic hemophilia.
@ast
Maternal duplication associated with gene deletion in sporadic hemophilia.
@en
prefLabel
Maternal duplication associated with gene deletion in sporadic hemophilia.
@ast
Maternal duplication associated with gene deletion in sporadic hemophilia.
@en
P2860
P1476
Maternal duplication associated with gene deletion in sporadic hemophilia.
@en
P2093
Gitschier J
P2860
P304
P407
P577
1988-09-01T00:00:00Z