A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
about
The Fanconi anemia polypeptide FACC is localized to the cytoplasmInduction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC alleleLocalization of Fanconi anemia C protein to the cytoplasm of mammalian cellsMolecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South AfricaMutation analysis of the Fanconi anemia gene FACCMutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse originsEvidence for at least eight Fanconi anemia genesA physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCANovel mutations and polymorphisms in the Fanconi anemia group C geneGenetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families.Congenital bone marrow failure syndromes.Phenotypic correction of Fanconi anemia in human hematopoietic cells with a recombinant adeno-associated virus vector.Erythropoiesis: Current Clinical Practice: Advances in the Genetics and Biology of Fanconi Anaemia.Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortionHeterozygous mutations in DNA repair genes and hereditary breast cancer: a question of power.Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.Fanconi anemia gene editing by the CRISPR/Cas9 system.Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.Carrier testing for autosomal-recessive disorders.DNA-based carrier screening in the Ashkenazi Jewish population.Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger SequencingFanconi anaemia genes and susceptibility to cancer.Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group C cells.High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.Inherited bone marrow failure syndromes in 2012.Genetic counseling for Fanconi anemia: crosslinking disciplines.How I manage patients with Fanconi anaemia.Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation.A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.CRISPR/Cas9 Targeted Gene Editing and Cellular Engineering in Fanconi Anemia.Report and abstracts of the Third International Workshop on Chromosome 9. Cambridge, United Kingdom, 9-11 April, 1994.Prototype sequence clues within the Fanconi anaemia group C gene.Ocular manifestations and visual functions in patients with Fanconi anaemia.The concise handbook of family cancer syndromes. Mayo Familial Cancer Program.
P2860
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P2860
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
description
1993 nî lūn-bûn
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1993 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հունիսին հրատարակված գիտական հոդված
@hy
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
name
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
@ast
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
@en
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
@nl
type
label
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
@ast
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
@en
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
@nl
prefLabel
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
@ast
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
@en
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
@nl
P2093
P2860
P356
P1433
P1476
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
@en
P2093
P2860
P2888
P304
P356
10.1038/NG0693-202
P407
P577
1993-06-01T00:00:00Z