Repiso, A <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0141-8955 
<br/><br/><label>Standard No.: </label>10.1007/s10545-005-0098-6  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Aspartic Acid--metabolism<br/>CD4 Antigens--genetics<br/>DNA Restriction Enzymes--metabolism<br/>Evolution, Molecular<br/>Family Health<br/>Female<br/>Glutamic Acid--metabolism<br/>Haplotypes<br/>Heterozygote<br/>Humans<br/>Mutation<br/>Polymerase Chain Reaction<br/>Polymorphism, Genetic<br/>Pregnancy<br/>Prenatal Diagnosis--methods<br/>Sequence Analysis, DNA<br/>Spain<br/>Triose-Phosphate Isomerase--deficiency