Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification.
Orimo
H
H
Department of Biochemistry and Molecular Biology, Nippon Medical School, Bunkyo-ku, Tokyo, Japan.
Goseki-Sone
M
M
Sato
S
S
Shimada
T
T
D000469:Alkaline Phosphatase / Q000172:deficiency / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D005784:Gene Amplification; D006801:Humans; D007014:Hypophosphatasia / Q000201:enzymology* / Q000235:genetics*; D007223:Infant; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion
D017931:DNA Primers; D000469:Alkaline Phosphatase