Current Knowledge on the Pathophysiology of Fanconi Anemia: From Genes to Phenotypes
- 1 July 2001
- journal article
- review article
- Published by Springer Nature in International Journal of Hematology
- Vol. 74 (1) , 33-41
- https://doi.org/10.1007/bf02982547
Abstract
No abstract availableKeywords
This publication has 126 references indexed in Scilit:
- Roles of BRCA1 and its interacting proteinsBioEssays, 2000
- Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patientsJournal of Human Genetics, 1999
- TheFANCA gene in Japanese Fanconi anemia: Reports of eight novel mutations and analysis of sequence variabilityHuman Mutation, 1999
- Fanconi anemia C gene product plays a role in the fidelity of blunt DNA end-joiningJournal of Molecular Biology, 1998
- P53 Activates Fanconi Anemia Group C Gene ExpressionHuman Molecular Genetics, 1997
- Expression cloning of a cDNA for the major Fanconi anaemia gene, FAANature Genetics, 1996
- Sequence variations in the Fanconi anaemia gene, FAC : pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variantHuman Genetics, 1996
- A nonsense mutation and exon skipping in the Fanconi anaemia group C geneHuman Molecular Genetics, 1993
- A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) proteinHuman Molecular Genetics, 1993
- Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCRHuman Molecular Genetics, 1993