New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family.
Repiso, A
New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family. [electronic resource] - Journal of inherited metabolic disease 2005 - 807-9 p. digital
Publication Type: Case Reports; Journal Article
0141-8955
10.1007/s10545-005-0098-6 doi
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
New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family. [electronic resource] - Journal of inherited metabolic disease 2005 - 807-9 p. digital
Publication Type: Case Reports; Journal Article
0141-8955
10.1007/s10545-005-0098-6 doi
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