Article
Mutation analysis of the Fanconi anemia gene FACC.
American journal of human genetics - 1 Apr 1994
Verlander P C, Lin J D, Udono M U, Zhang Q, Gibson R A, Mathew C G, Auerbach A D
Abstract excerpt
Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disorder characterized by a unique hypersensitivity of cells to DNA cross-linking agents; a gene for complementation group C (FACC) has recently been cloned. We have amplified FACC exons with their flanking intron sequences fr...
Topics
- Base Sequence
- Child
- DNA Mutational Analysis
- DNA, Single-Stranded
- Fanconi Anemia
- Female
- Gene Expression
- Genetic Carrier Screening
- Genetic Complementation Test
- Genetic Variation
- Genotype
- Humans
- Infant
- Male
- Molecular Sequence Data
- Nucleic Acid Conformation
- Pedigree
- Phenotype