Article
Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain.
Kidney international - 1 Dec 1993
Guo C, Van Damme B, Van Damme-Lombaerts R, Van den Berghe H, Cassiman J J, Marynen P
Abstract excerpt
PCR conditions were optimized to amplify the COL4A5 cDNA from lymphoblasts and kidney tissue. Sequencing of the COL4A5 mRNA isolated from the kidney of an Alport syndrome patient revealed two differences with the published sequence. One divergence, the insertion of an 18 bp sequence between exon...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- DNA, Complementary
- Female
- Gene Deletion
- Humans
- Kidney
- Lymphocytes
- Male
- Molecular Probes
- Molecular Sequence Data
- Mutation
- Nephritis, Hereditary
- Polymerase Chain Reaction
- RNA Splicing
- Transcription, Genetic