Article
Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene.
Human molecular genetics - 1 Jun 1993
Lázaro C, Gaona A, Ravella A, Volpini V, Casals T, Fuentes J J, Estivill X
Abstract excerpt
Neurofibromatosis type 1 (NF1) (von Recklinghausen) is a common autosomal dominant disorder, characterised by the presence of peripheral neurofibromas, café-au-lait spots and Lisch nodules of the iris. Due to the high mutation rate at the NF1 locus, most patients are expected to have different mu...
Topics
- Alleles
- Base Sequence
- Consensus Sequence
- DNA Mutational Analysis
- Female
- Genes, Neurofibromatosis 1
- Humans
- Introns
- Male
- Molecular Sequence Data
- Nucleic Acid Conformation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid
- Sequence Alignment
- Sequence Deletion
- Sequence Homology, Nucleic Acid