Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions.
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Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia AMutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemiaMolecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion.Prenatal diagnosis of haemophilia.Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.The characterization of twenty sequenced human genomes.Targeted inversion and reversion of the blood coagulation factor 8 gene in human iPS cells using TALENsHaemophilia A and haemophilia B: molecular insightsMRX review.Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.Optimizing exon skipping therapies for DMD.Blood coagulation factors V and VIII: Molecular Mechanisms of Procofactor Activation.Potential of oligonucleotide-mediated exon-skipping therapy for Duchenne muscular dystrophy.Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Protein replacement therapy and gene transfer in canine models of hemophilia A, hemophilia B, von willebrand disease, and factor VII deficiency.Prevention of spontaneous bleeding in dogs with haemophilia A and haemophilia B.Mutation detection in the repeated part of the PKD1 gene.Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardationEighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR.Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndromeInverted low-copy repeats and genome instability--a genome-wide analysisIntron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriersCurrent Practice in the Treatment of Haemophilia.A strategy for the molecular diagnosis in hemophilia a in Chinese population.Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.Origin of mutation in sporadic cases of severe haemophilia A in Sweden.The factor IX gene as a model for analysis of human germline mutations: an update.Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations.Informativeness of a novel multiallelic marker-set comprising an F8 intron 21 and three tightly linked loci for haemophilia A carriership analysis.Intron 22 factor VIII gene inversions in Argentine families with severe haemophilia A.High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.New protocol for detection of intron 22 inversion mutation from cases with hemophilia A.Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.An aberrant pattern for intron 1 inversion of factor VIII gene.Severe haemophilia A in a female resulting from two de novo factor VIII mutations.F8 gene mutation profile and ITT response in a cohort of Italian haemophilia A patients with inhibitors.The molecular aetiology of haemophilia A in a New Zealand patient group.
P2860
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P2860
Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
Characteristic mRNA abnormalit ...... s due to large DNA inversions.
@ast
Characteristic mRNA abnormalit ...... s due to large DNA inversions.
@en
type
label
Characteristic mRNA abnormalit ...... s due to large DNA inversions.
@ast
Characteristic mRNA abnormalit ...... s due to large DNA inversions.
@en
prefLabel
Characteristic mRNA abnormalit ...... s due to large DNA inversions.
@ast
Characteristic mRNA abnormalit ...... s due to large DNA inversions.
@en
P2093
P921
P356
P1476
Characteristic mRNA abnormalit ...... s due to large DNA inversions.
@en
P2093
P304
P356
10.1093/HMG/2.11.1773
P577
1993-11-01T00:00:00Z