Article
Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.
Human molecular genetics - 1 Sept 1998
Geraghty M T, Vaughn D, Nicholson A J, Lin W W, Jimenez-Sanchez G, Obie C, Flynn M P, Valle D, Hu C A
Abstract excerpt
We surveyed Delta1-pyrroline 5-carboxylate dehydrogenase genes from four patients with hyperprolinemia type II using RT-PCR amplification, genomic PCR amplification and direct sequencing. We found four mutant alleles, two with frameshift mutations [A7fs(-1) and G521fs(+1)] and two with missense m...
Topics
- 1-Pyrroline-5-Carboxylate Dehydrogenase
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Base Sequence
- Cell Line
- DNA Primers
- DNA, Complementary
- Female
- Frameshift Mutation
- Gene Expression
- Humans
- Male
- Mutation
- Oxidoreductases Acting on CH-NH Group Donors
- Pedigree
- Point Mutation
- Polymerase Chain Reaction