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14篇 您的检索式:作者名="Henthorn PS"
    题名 作者 年代 出处 被引量
1Mild autosomal dominant hypophesphatasia: In utere presentation in two families显示文摘Moore CA Cuny CJR Henthorn PS 1999American Journal of Medical Genetics1999,86,:1
2Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia显示文摘Henthorn PS Raducha M Fedde KN 1992Proc Natl Acad Sci USA1992,89,:1
3Isolation and characterization of a cDNA encoding a human liver/bone/kidney- type alkaline phosphatase显示文摘Weiss MJ Henthorn PS Lafferty MA 1986Proc Natl Acad Sci U S A1986,83,:1
4Structure of the human liver/bone/kidney alkaline phosphatase gene 显示文摘Weiss M J Ray K Henthorn PS 1988J Biol Chem1988,263,12:1
5Sequence and characterization of the human intestinal alkaline phosphatase gene显示文摘Henthorn PS Raducha M Kadesch T 1988J Biol Chem1988,263,12:1
6A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion:comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints显示文摘Mager DL Henthorn PS Smithies O 1985Nucleic Acids Res1985,13,18:1
7Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency 显示文摘Puck JM Pepper AE Henthorn PS 1997Blood1997,89,6:1
8Missense mutations of the tissuenonspecific alkaline phosphatase gene in hypophosphatasia显示文摘Henthorn PS 1992Clin Chem1992,38,:1
9Molecular analysis of deletions in the human beta-globin gene cluster:deletion junctions and locations of breakpoints显示文摘Henthorn PS Smithies O Mager DL 1990Genomics1990,6,2:1
10Mild autosomal dominant hypophosphatasia: in ulero presentation in two families显示文摘Moore CA Curry C J Henthorn PS 1999Am J Med Genet1999,86,5:1
11Mutation analysis of IL-2RG in human X-linked severe combined immunodeficiency显示文摘Puck JM Pepper AE Henthorn PS 1997Blood1997,89,:1
12Mild autosomal dominant hypophosphatasia:in utero presentation in two families显示文摘Moore CA Curry CJ Henthorn PS 1999Am J Med Genet1999,86,:1
13A Chinese ^Gγ( ^Aγδβ)^0 thalasse- mia deletion: Comparison to other deletions in the human β - globin gene cluster and sequence analysis of the breakpoints 显示文摘Mager DL Henthorn PS Smithies O 1985Nucleic Acids Res1985,13,:1
14Missense mutations of the tissuenonspecific alkaline phosphatase gene in hypophosphatasia显示文摘Henthorn PS Whyte MP 1992Clin Chem1992,38,:1
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