Phosphate is one of the essential elements supporting life. Cells accumulate phosphate in
the form of a molecule called polyphosphate (polyP), which carries many functions in the …

As implied by Greek etymology, polymerases make multiple (poly) identical parts (meroi) of
a template. Specifically, polymerase g (POLG) is in charge of replicating the mitochondrial …

Hypophosphatasia (HPP) is a rare inherited disorder primarily affecting bone and dental
mineralization. Although there is a continuum in the severity of the disease, clinical forms …

Hypophosphatasia (HPP) is due to mutations of the tissue non-specific alkaline
phosphatase (TNAP) alkaline phosphatases gene expressed in the liver, kidney, and bone …

Deficiency of purine nucleoside Phosphorylase (PNP) is causally associated with a cellular
immunodeficiency manifested by lymphopenia and severely decreased to negative …

Background Mild hypophosphatasia (HPP) phenotype may result from ALPL gene mutations
exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations …

Abbreviated purine nucleoside phosphorylase (PNP) genes were engineered to determine
the effect of introns on human PNP gene expression. PNP minigenes containing the first …

Four percent of human severe combined immunodeficiency cases are caused by a
deficiency of the enzyme purine nucleoside phosphorylase (PNP). In this study we …

Purine nucleoside phosphorylase deficiency in association with immunodeficiency is a
distinctive immunological disorder. A total of nine patients, in six different institutions, have …

Sir—In their report, Xiao-Ping Zhou and colleagues (July 21, p 210) 1 describe a study of
nine patients with Proteus syndrome, of whom two had mutations in the PTEN gene. They …