Article
Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.
Journal of human genetics - 1 Jan 1999
Nakamura A, Matsuura S, Tauchi H, Hanada R, Ohashi H, Hasegawa T, Honda K, Masuno M, Imaizumi K, Sugita K, Ide T, Komatsu K
Abstract excerpt
Fanconi anemia (FA) is an autosomal recessive disorder characterized by pancytopenia, predisposition to cancers, and a diverse variety of congenital malformations. At least eight complementation groups, A through H, have been described. Recently, the FA-A gene (FAA) has been isolated, and a large...
Topics
- Base Sequence
- Cell Cycle Proteins
- DNA Primers
- DNA, Complementary
- DNA-Binding Proteins
- Fanconi Anemia
- Fanconi Anemia Complementation Group Proteins
- Humans
- Japan
- Mutation
- Nuclear Proteins
- Polymorphism, Single-Stranded Conformational
- Proteins
- Reverse Transcriptase Polymerase Chain Reaction