ArticleAmerican journal of human genetics1997
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
15 citing papers in PubMed, 62 citations in OpenAlex.
- A self-repair history: compensatory effect of aFrontiers in genetics · 2023Article
- SIK2 kinase synthetic lethality is driven by spindle assembly defects in FANCA-deficient cells.Molecular oncology · 2022Article
- Article
- Review
- Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.Haematologica · 2018Article
- Investigation of FANCA gene in Fanconi anaemia patients in Iran.The Indian journal of medical research · 2016Article
- A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.Italian journal of pediatrics · 2015Review
- Article
- A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network.Journal of medical genetics · 2007Article
- Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia.Leukemia · 2004Article
- Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.Journal of human genetics · 2003Article
- Fanconi anaemia.Journal of medical genetics · 2003Review
- Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.International journal of hematology · 2001Review
- High frequency of large intragenic deletions in the Fanconi anemia group A gene.American journal of human genetics · 1999Article
- A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. At least five complementation groups (FA-A-FA-E) have been identified. The relative prevalence of FA-A has been estimated at an average of approximately 65% but may widely vary according to ethnic background. In Italy, 11 of 12 patients analyzed by cell-fusion studies were assigned to group FA-A, suggesting an unusually high relative prevalence of this FA subtype in patients of Italian ancestry. We have screened the 43 exons of the FAA gene and their flanking intronic sequences in 38 Italian FA patients, using RNA-SSCP. Ten different mutations were detected: three nonsense and one missense substitutions, four putative splice mutations, an insertion, and a duplication. Most of the mutations are expected to cause a premature termination of the FAA protein at various sites throughout the molecule. Four protein variants were also found, three of which were polymorphisms. The missense mutation D1359Y, not found in chromosomes from healthy unrelated individuals, was responsible for a local alteration of hydrophobicity in the FAA protein, and it was likely to be pathogenic. Thus, the mutations so far encountered in the FAA gene are essentially all different. Since screening based on the analysis of single exons by genomic DNA amplification apparently detects only a minority of the mutations, methods designed to detect alterations in the genomic structure of the gene or in the FAA polypeptide may be helpful in the identification of FAA mutations.
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