Article
Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus.
Human genetics - 1 Dec 1992
Stark M, Assum G, Kaufmann D, Kehrer H, Krone W
Abstract excerpt
A previously identified complex mutation, affecting exon 28 of the neurofibromatosis type 1 gene, was employed for the analysis of the expression pattern in primary cultures of neurofibroma cells and melanocytes from a café-au-lait macule of the patient, respectively. Reverse transcription and su...
Topics
- Adult
- Alleles
- Base Sequence
- Cells, Cultured
- Child, Preschool
- DNA, Single-Stranded
- Female
- Genes, Neurofibromatosis 1
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Neurofibromatosis 1
- Pedigree
- Polymerase Chain Reaction
- Transcription, Genetic