Article
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
Human molecular genetics - 1 Oct 1994
Marble M, Geraghty M T, de Franchis R, Kraus J P, Valle D
Abstract excerpt
We used SSCP to survey reverse transcribed-PCR amplified cystathionine synthase cDNAs from patients with homocystinuria. In a single CBS allele, we identified one synonymous and two missense mutations in a portion of the cDNA encoded by a single 135 bp exon which also encodes K119, the putative site of cofactor, pyridoxal 5'-phosphate, binding. The patient, a B6-nonresponsive homocystinuric of Irish descent, is...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Base Sequence
- Conserved Sequence
- Cystathionine beta-Synthase
- DNA Primers
- Female
- Gene Expression
- Homocystinuria
- Humans