Detection of Deletion 1154–1156 Hypophosphatasia Mutation Using TNSALP Exon Amplification

Alkaline phosphatases [ALPs; orthophosphoric-monoester phosphohydrolase (alkaline optimum), EC 3.1.3.1] are ubiquitously distributed membrane-bound enzymes that hydrolyze monophosphate esters at a high pH optimum, but their physiological roles are not well understood. In humans, four ALP genes, tiss...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Genomics (San Diego, Calif.) Calif.), 1997-06, Vol.42 (2), p.364-366
Hauptverfasser:	Orimo, Hideo, Goseki-Sone, Masae, Sato, Seiji, Shimada, Takashi
Format:	Artikel
Sprache:	eng
Schlagworte:	Alkaline Phosphatase - deficiency Alkaline Phosphatase - genetics Alleles Base Sequence Biological and medical sciences Cloning, Molecular DNA Mutational Analysis DNA Primers - genetics Exons Female Gene Amplification Humans Hypophosphatasia - enzymology Hypophosphatasia - genetics Infant Introns Male Medical sciences Metabolic diseases Metals (hemochromatosis...) Molecular Sequence Data Other metabolic disorders Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Sequence Deletion
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!