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Volumn 97, Issue 1, 1999, Pages 73-78

Hypophosphatasia: Diagnostic application of linked DNA markers in the dominantly inherited adult form

Author keywords

Alkaline phosphatase; Autosomal dominant; Hypophosphatasia; Restriction fragment length polymorphism (RFLP)

Indexed keywords

ALKALINE PHOSPHATASE; PHOSPHOETHANOLAMINE; PYRIDOXAL 5 PHOSPHATE; PYROPHOSPHATE;

EID: 0032817082     PISSN: 01435221     EISSN: None     Source Type: Journal    
DOI: 10.1042/CS19980342     Document Type: Article
Times cited : (3)

References (24)
  • 1
    • 0001594259 scopus 로고
    • Hypophosphatasia
    • Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D., eds., McGraw-Hill, New York
    • Whyte, M. P. (1995) Hypophosphatasia. In The Metabolic and Molecular Basis of Inherited Disease, 7th edn., vol. 3 (Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D., eds.), pp. 4095-4111, McGraw-Hill, New York
    • (1995) The Metabolic and Molecular Basis of Inherited Disease, 7th Edn. , vol.3 , pp. 4095-4111
    • Whyte, M.P.1
  • 2
    • 0025021039 scopus 로고
    • The human alkaline phosphatases: What we know and what we don't know
    • Harris, H. (1990) The human alkaline phosphatases: what we know and what we don't know. Clin. Chim. Acta 188, 133-150
    • (1990) Clin. Chim. Acta , vol.188 , pp. 133-150
    • Harris, H.1
  • 3
    • 0023555528 scopus 로고
    • Human placental and intestinal alkaline phosphatase genes map to 2q34-q37
    • Griffin, C. A., Smith, M., Henthorn, P. S. et al. (1987) Human placental and intestinal alkaline phosphatase genes map to 2q34-q37. Am. J. Hum. Genet. 41, 1025-1034
    • (1987) Am. J. Hum. Genet. , vol.41 , pp. 1025-1034
    • Griffin, C.A.1    Smith, M.2    Henthorn, P.S.3
  • 4
    • 0023955534 scopus 로고
    • Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-34
    • Smith, M., Weiss, M. J., Griffin, C. A. et al. (1988) Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34. Genomics 2, 139-143
    • (1988) Genomics , vol.2 , pp. 139-143
    • Smith, M.1    Weiss, M.J.2    Griffin, C.A.3
  • 5
    • 0023696449 scopus 로고
    • Structure of the human liver/bone/kidney alkaline phosphatase gene
    • Weiss, M. J., Ray, K., Henthorn, P. S., Lamb, B., Kadesch, T. and Harris, H. (1988) Structure of the human liver/bone/kidney alkaline phosphatase gene. J. Biol. Chem. 263, 12002-12010
    • (1988) J. Biol. Chem. , vol.263 , pp. 12002-12010
    • Weiss, M.J.1    Ray, K.2    Henthorn, P.S.3    Lamb, B.4    Kadesch, T.5    Harris, H.6
  • 6
    • 0025367098 scopus 로고
    • Characterization of a 5′-flanking region of the human liver/bone/kidney alkaline phosphatase gene: Two kinds of mRNA from a single gene
    • Matsuura, S., Kishi, F. and Kajii, T. (1990) Characterization of a 5′-flanking region of the human liver/bone/kidney alkaline phosphatase gene: two kinds of mRNA from a single gene. Biochem. Biophys. Res. Commun. 168, 993-1000
    • (1990) Biochem. Biophys. Res. Commun. , vol.168 , pp. 993-1000
    • Matsuura, S.1    Kishi, F.2    Kajii, T.3
  • 7
    • 0009721809 scopus 로고
    • Familial nephrogenic osteopathy due to excessive tubular reabsorption of inorganic phosphate: A new syndrome and a novel mode of relief
    • Schneider, R. W. and Corcoran, A. C. (1950) Familial nephrogenic osteopathy due to excessive tubular reabsorption of inorganic phosphate: a new syndrome and a novel mode of relief. J. Lab. Clin. Med. 36, 985-986
    • (1950) J. Lab. Clin. Med. , vol.36 , pp. 985-986
    • Schneider, R.W.1    Corcoran, A.C.2
  • 8
    • 0027062860 scopus 로고
    • Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia
    • Henthorn, P. S. and Whyte, M. P. (1992) Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia. Clin. Chem. 38, 2501-2505
    • (1992) Clin. Chem. , vol.38 , pp. 2501-2505
    • Henthorn, P.S.1    Whyte, M.P.2
  • 9
    • 0021032457 scopus 로고
    • Raised serum acid phosphatase activity in an adult with hypophosphatasia
    • Iqbal, S. J., Taylor, W. H., Roberts, N. B. and Darlow, J. M. (1983) Raised serum acid phosphatase activity in an adult with hypophosphatasia. J. Inher. Metab. Dis. 6 (Suppl. 2), 103-104
    • (1983) J. Inher. Metab. Dis. , vol.6 , Issue.SUPPL. 2 , pp. 103-104
    • Iqbal, S.J.1    Taylor, W.H.2    Roberts, N.B.3    Darlow, J.M.4
  • 11
    • 0023119397 scopus 로고
    • A high-frequency RFLP at the liver/bone/kidney-type alkaline phosphatase locus
    • Weiss, M. J., Spielman, R. S. and Harris, H. (1987) A high-frequency RFLP at the liver/bone/kidney-type alkaline phosphatase locus. Nucleic Acids Res. 15, 860
    • (1987) Nucleic Acids Res. , vol.15 , pp. 860
    • Weiss, M.J.1    Spielman, R.S.2    Harris, H.3
  • 12
    • 0025181430 scopus 로고
    • Infantile hypophosphatasia: Localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers
    • Greenberg, C. R., Evans, J. A., McKendry-Smith, S. et al. (1991) Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am. J. Hum. Genet. 46, 286-292
    • (1991) Am. J. Hum. Genet. , vol.46 , pp. 286-292
    • Greenberg, C.R.1    Evans, J.A.2    McKendry-Smith, S.3
  • 13
    • 0023805347 scopus 로고
    • Hypophosphatasia: Biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease
    • Macfarlane, J. D., Poorthius, B. J. H. M., van de Kamp, J. J. P., Russell, R. G. G. and Caswell, A. M. (1988) Hypophosphatasia: biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease. Clin. Chem. 34, 1937-1941
    • (1988) Clin. Chem. , vol.34 , pp. 1937-1941
    • Macfarlane, J.D.1    Poorthius, B.J.H.M.2    Van De Kamp, J.J.P.3    Russell, R.G.G.4    Caswell, A.M.5
  • 14
    • 0005560929 scopus 로고    scopus 로고
    • Enzymes
    • Gowenlock, A. H., McMurray, A. R. and McLauchlan, D. M., eds., Butterworth-Heinemann, London
    • McLauchlan, D. M. (1998) Enzymes. In Varley's Practical Clinical Biochemistry, 6th edn. (Gowenlock, A. H., McMurray, A. R. and McLauchlan, D. M., eds.), pp. 528-541, Butterworth-Heinemann, London
    • (1998) Varley's Practical Clinical Biochemistry, 6th Edn. , pp. 528-541
    • McLauchlan, D.M.1
  • 15
    • 0022345468 scopus 로고
    • First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase
    • Warren, R. C., McKenzie, C. F., Rodeck, C. H., Moscoso, G., Brock, D. J. H. and Barron, L. (1985) First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase. Lancet ii, 856-858
    • (1985) Lancet , vol.2 , pp. 856-858
    • Warren, R.C.1    McKenzie, C.F.2    Rodeck, C.H.3    Moscoso, G.4    Brock, D.J.H.5    Barron, L.6
  • 16
    • 0025766004 scopus 로고
    • First-trimester prenatal diagnosis of hypophosphatasia: Experience with 16 cases
    • Brock, D. J. H. and Barron, L. (1991) First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases. Prenatal Diagn. 11, 387-391
    • (1991) Prenatal Diagn. , vol.11 , pp. 387-391
    • Brock, D.J.H.1    Barron, L.2
  • 18
    • 0019425145 scopus 로고
    • Prenatal diagnosis of hypophosphatasia
    • Kousseff, B. G. and Mulivor, R. A. (1981) Prenatal diagnosis of hypophosphatasia. Obstet. Gynecol. 57 (Suppl. 6), 9S-12S
    • (1981) Obstet. Gynecol. , vol.57 , Issue.SUPPL. 6
    • Kousseff, B.G.1    Mulivor, R.A.2
  • 20
  • 21
    • 0001442791 scopus 로고
    • Apparent dominant inheritance of hypophosphatasia
    • Silverman, J. L. (1962) Apparent dominant inheritance of hypophosphatasia. Arch. Intern. Med. 110, 191-198
    • (1962) Arch. Intern. Med. , vol.110 , pp. 191-198
    • Silverman, J.L.1
  • 22
    • 0021079828 scopus 로고
    • Clinical, laboratory, and genetic investigations of hypophosphatasia: Support for autosomal dominant inheritance with homozygous lethality
    • Eastman, J. R. and Bixler, D. (1983) Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality. J. Craniofacial Genet. Dev. Biol. 3, 213-234
    • (1983) J. Craniofacial Genet. Dev. Biol. , vol.3 , pp. 213-234
    • Eastman, J.R.1    Bixler, D.2
  • 23
    • 0027685921 scopus 로고
    • Hypophosphatasia: Dental aspects and mode of inheritance
    • Chapple, I. L. C. (1991) Hypophosphatasia: dental aspects and mode of inheritance. J. Clin. Periodontol. 20, 615-622
    • (1991) J. Clin. Periodontol. , vol.20 , pp. 615-622
    • Chapple, I.L.C.1
  • 24
    • 0026713191 scopus 로고
    • Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia
    • Henthorn, P. S., Raducha, M., Fedde, K. N., Lafferty, M. A. and Whyte, M. P. (1992) Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc. Natl. Acad. Sci. U.S.A. 89, 9924-9928
    • (1992) Proc. Natl. Acad. Sci. U.S.A. , vol.89 , pp. 9924-9928
    • Henthorn, P.S.1    Raducha, M.2    Fedde, K.N.3    Lafferty, M.A.4    Whyte, M.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.