Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the HEXB Gene
Wang, P., Henthorn, P.S., Galban, E., Lin, G., Takedai, T., Casal, M.
Published in Journal of veterinary internal medicine (01.01.2018)
Published in Journal of veterinary internal medicine (01.01.2018)
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Journal Article
Putative candidate genes for canine hypoadrenocorticism (Addison's disease) in multiple dog breeds
Short, A. D., Catchpole, B., Boag, A. M., Kennedy, L. J., Massey, J., Rothwell, S., Henthorn, P. S., Littman, M. P., Husebye, E., Ollier, B.
Published in Veterinary record (01.11.2014)
Published in Veterinary record (01.11.2014)
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Journal Article
Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency
PUCK, J. M, PEPPER, A. E, BUCKLEY, R. H, HENTHORN, P. S, CANDOTTI, F, ISAKOV, J, WHITWAM, T, CONLEY, M. E, FISCHER, R. E, ROSENBLATT, H. M, SMALL, T. N
Published in Blood (15.03.1997)
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Published in Blood (15.03.1997)
Journal Article
Structure of the human liver/bone/kidney alkaline phosphatase gene
Weiss, M J, Ray, K, Henthorn, P S, Lamb, B, Kadesch, T, Harris, H
Published in The Journal of biological chemistry (25.08.1988)
Published in The Journal of biological chemistry (25.08.1988)
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Journal Article
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
Puck, J M, Deschênes, S M, Porter, J C, Dutra, A S, Brown, C J, Willard, H F, Henthorn, P S
Published in Human molecular genetics (01.08.1993)
Published in Human molecular genetics (01.08.1993)
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Journal Article
Canine cystinuria : polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs
HENTHORN, Paula S, JUNLONG LIU, GIDALEVICH, Tanya, JIKANG FANG, CASAL, Margret L, PATTERSON, Donald F, GIGER, Urs
Published in Human genetics (01.10.2000)
Published in Human genetics (01.10.2000)
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Journal Article
Isolation and Characterization of a cDNA Encoding a Human Liver/Bone/Kidney-Type Alkaline Phosphatase
Weiss, Mitchell J., Henthorn, Paula S., Lafferty, Mary Ann, Slaughter, Clive, Raducha, Michael, Harris, Harry
Published in Proceedings of the National Academy of Sciences - PNAS (01.10.1986)
Published in Proceedings of the National Academy of Sciences - PNAS (01.10.1986)
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Journal Article
Different Missense Mutations at the Tissue-Nonspecific Alkaline Phosphatase Gene Locus in Autosomal Recessively Inherited Forms of Mild and Severe Hypophosphatasia
Henthorn, Paula S., Raducha, Michael, Fedde, Kenton N., Lafferty, Mary Ann, Whyte, Michael P.
Published in Proceedings of the National Academy of Sciences - PNAS (15.10.1992)
Published in Proceedings of the National Academy of Sciences - PNAS (15.10.1992)
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Journal Article
Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy
Whyte, M P, Landt, M, Ryan, L M, Mulivor, R A, Henthorn, P S, Fedde, K N, Mahuren, J D, Coburn, S P
Published in The Journal of clinical investigation (01.04.1995)
Published in The Journal of clinical investigation (01.04.1995)
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Journal Article
Molecular Basis of Feline β-Glucuronidase Deficiency: An Animal Model of Mucopolysaccharidosis VII
Fyfe, John C., Kurzhals, Rebeccah L., Lassaline, Mary E., Henthorn, Paula S., Alur, Prasad R.K., Wang, Ping, Wolfe, John H., Giger, Urs, Haskins, Mark E., Patterson, Donald F., Sun, Huaichang, Jain, Sanjeev, Yuhki, Naoya
Published in Genomics (San Diego, Calif.) (01.06.1999)
Published in Genomics (San Diego, Calif.) (01.06.1999)
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Journal Article
Familial Glomerulonephropathy in the Bullmastiff
Casal, M. L., Dambach, D. M., Meister, T., Jezyk, P. F., Patterson, D. F., Henthorn, P. S.
Published in Veterinary pathology (01.07.2004)
Published in Veterinary pathology (01.07.2004)
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Journal Article
Sequence and characterization of the human intestinal alkaline phosphatase gene
Henthorn, P S, Raducha, M, Kadesch, T, Weiss, M J, Harris, H
Published in The Journal of biological chemistry (25.08.1988)
Published in The Journal of biological chemistry (25.08.1988)
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Journal Article
Cloning of the Canine β-Glucuronidase cDNA, Mutation Identification in Canine MPS VII, and Retroviral Vector-Mediated Correction of MPS VII Cells
Ray, Jharna, Bouvet, Alain, DeSanto, Christopher, Fyfe, John C., Xu, Danbin, Wolfe, John H., Aguirre, Gustavo D., Patterson, Donald F., Haskins, Mark E., Henthorn, Paula S.
Published in Genomics (San Diego, Calif.) (01.03.1998)
Published in Genomics (San Diego, Calif.) (01.03.1998)
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Journal Article
Physical and Linkage Mapping of Human Chromosome 17 Loci to Dog Chromosomes 9 and 5
Werner, Petra, Raducha, Michael G., Prociuk, Ulana, Henthorn, Paula S., Patterson, Donald F.
Published in Genomics (San Diego, Calif.) (15.05.1997)
Published in Genomics (San Diego, Calif.) (15.05.1997)
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Journal Article
Expression of a Human Placental Alkaline Phosphatase Gene in Transfected Cells: Use as a Reporter for Studies of Gene Expression
Henthorn, Paula, Zervos, Paula, Raducha, Michael, Harris, Harry, Kadesch, Tom
Published in Proceedings of the National Academy of Sciences - PNAS (01.09.1988)
Published in Proceedings of the National Academy of Sciences - PNAS (01.09.1988)
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Journal Article