Article
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
American journal of human genetics - 1 May 1994
Tsujino S, Servidei S, Tonin P, Shanske S, Azan G, DiMauro S
Abstract excerpt
We have identified three novel mutations in four non-Ashkenazi Italian patients with muscle phosphofructokinase (PFK-M) deficiency (Tarui disease). Patient 1 was homozygous for an A-to-C substitution at the 3' end of intron 6 of the PFK-M gene, changing the consensus splice-junction sequence AG t...
Topics
- Adolescent
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Codon
- Consensus Sequence
- DNA Primers
- Exons
- Glycogen Storage Disease Type VII
- Heterozygote
- Homozygote
- Humans
- Introns
- Italy
- Jews
- Male
- Molecular Sequence Data