TY  - GEN
AU  - Repiso,A
AU  - Corrons,J L Vives
AU  - Vulliamy,T
AU  - Killeen,N
AU  - Layton,M
AU  - Carreras,J
AU  - Climent,F
TI  - New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family
SN  - 0141-8955
PY  - 2006///0130
KW  - Aspartic Acid
KW  - metabolism
KW  - CD4 Antigens
KW  - genetics
KW  - DNA Restriction Enzymes
KW  - Evolution, Molecular
KW  - Family Health
KW  - Female
KW  - Glutamic Acid
KW  - Haplotypes
KW  - Heterozygote
KW  - Humans
KW  - Mutation
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Genetic
KW  - Pregnancy
KW  - Prenatal Diagnosis
KW  - methods
KW  - Sequence Analysis, DNA
KW  - Spain
KW  - Triose-Phosphate Isomerase
KW  - deficiency
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s10545-005-0098-6
ER  -