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M. A. Lafferty

University of Pennsylvania

8

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Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

1992 Proceedings of the National Academy of Sciences of the United States of America
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Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.

1989 American Journal of Human Genetics
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First identification of a gene defect for hypophosphatasia: evidence that alkaline phosphatase acts in skeletal mineralization.

1989 Connective Tissue Research
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A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia

1988 Proceedings of the National Academy of Sciences of the United States of America
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Nucleotide and amino acid sequences of human intestinal alkaline phosphatase: Close homology to placental alkaline phosphatase

1987 Proceedings of the National Academy of Sciences of the United States of America
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Products of two common alleles at the locus for human placental alkaline phosphatase differ by seven amino acids.

1986 Proceedings of the National Academy of Sciences of the United States of America
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Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase

1986 Proceedings of the National Academy of Sciences of the United States of America
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Production of a monoclonal antibody to human liver alkaline phosphatase

1982 Clinica Chimica Acta
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