Somatic mosaicism in hemophilia A: a fairly common event. - Wikidata - awgldk - TriplyDB

Somatic mosaicism in hemophilia A: a fairly common event.

Somatic mosaicism in hemophilia A: a fairly common event.

http://www.wikidata.org/entity/Q34020470

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Heterozygous mutations of OTX2 cause severe ocular malformations The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males Genetic analysis of haemophilia A in Bulgaria Neutrophil elastase mutations in congenital neutropenia Mechanisms and consequences of somatic mosaicism in humans In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.First description of somatic mosaicism in MYH9 disorders.Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.Molecular basis of haemophilia A.Genetic diagnosis of haemophilia and other inherited bleeding disorders.Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling Understanding what determines the frequency and pattern of human germline mutations.Factor VIII therapy for hemophilia A: current and future issues.Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients.Origin of mutation in sporadic cases of severe haemophilia A in Sweden.Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.The second Team Haemophilia Education Meeting, 2016, Frankfurt, Germany.High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing.Genotype and phenotype of haemophilia A in Thai patients.Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions.Exclusion of mosaicism in Spanish haemophilia A families with inversion of intron 22.The molecular aetiology of haemophilia A in a New Zealand patient group.The status of carrier and prenatal diagnosis of haemophilia in China.Heterozygous large deletions of Factor 8 gene in females identified by multiplex PCR-LC.F8 gene dosage defects in atypical patients with severe haemophilia A.Carrier analysis for hemophilia A: ideal versus acceptable.The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.RET somatic mutations are underrecognized in Hirschsprung disease.Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.

P2860

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P2860

Somatic mosaicism in hemophilia A: a fairly common event.

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2001 nî lūn-bûn

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2001年の論文

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2001年論文

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2001年論文

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name

Somatic mosaicism in hemophilia A: a fairly common event.

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Somatic mosaicism in hemophilia A: a fairly common event.

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Somatic mosaicism in hemophilia A: a fairly common event.

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Somatic mosaicism in hemophilia A: a fairly common event.

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Somatic mosaicism in hemophilia A: a fairly common event.

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Somatic mosaicism in hemophilia A: a fairly common event.

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Somatic mosaicism in hemophilia A: a fairly common event.

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Somatic mosaicism in hemophilia A: a fairly common event.

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Somatic mosaicism in hemophilia A: a fairly common event.

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American Journal of Human Genetics

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Somatic mosaicism in hemophilia A: a fairly common event

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P2093

Eigel A

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Fregin A

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Lavergne JM

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Leuer M

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Ljung R

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Ludwig M

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Oldenburg J

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Olek K

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Peake I

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P2860

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

Germline and somatic mosaicism in a female carrier of Hunter disease

CpNpG methylation in mammalian cells.

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution

High rate of mosaicism in tuberous sclerosis complex.

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.

Molecular analysis of hemophilia A mutations in the Finnish population

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

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