Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
about
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesHuman genome sequencing in health and diseaseDPY19L2 deletion as a major cause of globozoospermiaCharacterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia AGene conversion homogenizes the CMT1A paralogous repeatsGenetic analysis of haemophilia A in BulgariaClinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsThe Canadian "National Program for hemophilia mutation testing" database: a ten-year reviewCompound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093IleIdentification of missense mutations in exon 16 of factor VIII gene in mild and moderate cases with hemophilia A.Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.Haemophilia management: time to get personal?High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.The effect of genomic inversions on estimation of population genetic parameters from SNP data.Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion.Evidence for large inversion polymorphisms in the human genome from HapMap dataThe Bleeding Assessment Tool and laboratory data in the characterisation of a female with inherited haemophilia A.Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRMNucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.Prenatal diagnosis of haemophilia.From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs.Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.Gene therapy for the hemophilias.Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization.Inversion variants in the human genome: role in disease and genome architectureMolecular mechanisms for CMT1A duplication and HNPP deletion.Targeted inversion and reversion of the blood coagulation factor 8 gene in human iPS cells using TALENsDeletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia.The functional impact of structural variation in humans.Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutationsGenome architecture catalyzes nonrecurrent chromosomal rearrangementsHaemophilia A and haemophilia B: molecular insightsA 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.Somatic mosaicism in hemophilia A: a fairly common event.BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.A W-linked palindrome and gene conversion in New World sparrows and blackbirds.Recombinant canine B-domain-deleted FVIII exhibits high specific activity and is safe in the canine hemophilia A model.Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.
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P2860
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
description
1993 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1993
@ast
im November 1993 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1993/11/01)
@sk
vědecký článek publikovaný v roce 1993
@cs
wetenschappelijk artikel (gepubliceerd op 1993/11/01)
@nl
наукова стаття, опублікована в листопаді 1993
@uk
name
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
@ast
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
@en
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
@nl
type
label
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
@ast
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
@en
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
@nl
prefLabel
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
@ast
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
@en
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
@nl
P2093
P2860
P356
P1433
P1476
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
@en
P2093
Gitschier J
Kazazian HH Jr
P2860
P2888
P304
P356
10.1038/NG1193-236
P407
P577
1993-11-01T00:00:00Z