New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family. [electronic resource]
Producer: 20060130Description: 807-9 p. digitalISSN:- 0141-8955
- Aspartic Acid -- metabolism
- CD4 Antigens -- genetics
- DNA Restriction Enzymes -- metabolism
- Evolution, Molecular
- Family Health
- Female
- Glutamic Acid -- metabolism
- Haplotypes
- Heterozygote
- Humans
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Pregnancy
- Prenatal Diagnosis -- methods
- Sequence Analysis, DNA
- Spain
- Triose-Phosphate Isomerase -- deficiency
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Publication Type: Case Reports; Journal Article
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