Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene

THE QUANTITATIVE HISTOCHEMISTRY OF BRAIN

Oliver H. Lowry, Nira R. Roberts, Meiling Wu et al. · Journal of Biological Chemistry · 1954 · 812 citations · Full text

Brain Structure, Neurophysiology, Neuroanatomy +7

Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase.

Mitchell J. Weiss, Paula S. Henthorn, M A Lafferty et al. · Proceedings of the National Academy of Sciences · 1986 · 399 citations

Molecular Biology, Cellular Physiology, Protein Synthesis +16

Structure of the human liver/bone/kidney alkaline phosphatase gene.

Mitchell J. Weiss, Kunal Ray, Paula S. Henthorn et al. · Journal of Biological Chemistry · 1988 · 385 citations · Full text

A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

Mitchell J. Weiss, David E.C. Cole, Kunal Ray et al. · Proceedings of the National Academy of Sciences · 1988 · 336 citations · Full text

Genetics, Pathology, Osteogenesis +16

Correlations of genotype and phenotype in hypophosphatasia

Laurence Zurutuza · Human Molecular Genetics · 1999 · 198 citations · Full text

Genetics, Pathology, Molecular Genetics +16