-
1
-
-
25944457472
-
-
Baltimore: John Hopkins University Press
-
McKusick VA. Mendelian Inheritance in Man, 7th ed. Baltimore: John Hopkins University Press; 1986:409-410; 1055-1057.
-
(1986)
Mendelian Inheritance in Man, 7th Ed.
, vol.409-410
, pp. 1055-1057
-
-
McKusick, V.A.1
-
2
-
-
0005131802
-
Hypophosphatasia
-
Peck WA, ed. New York: Elsevier Science Publishers
-
Whyte MP. Hypophosphatasia. In Peck WA, ed. Bone and Mineral Research, Vol. 6. New York: Elsevier Science Publishers; 1989:175-218.
-
(1989)
Bone and Mineral Research
, vol.6
, pp. 175-218
-
-
Whyte, M.P.1
-
3
-
-
0001206301
-
Hypophosphatasia
-
Frazer D. Hypophosphatasia. Am J Med 1957;22:730-746.
-
(1957)
Am J Med
, vol.22
, pp. 730-746
-
-
Frazer, D.1
-
4
-
-
0011322884
-
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia
-
USA
-
Weiss MJ, Cole DE, Ray K, et al. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci (USA) 1988;85:7666-7669.
-
(1988)
Proc Natl Acad Sci
, vol.85
, pp. 7666-7669
-
-
Weiss, M.J.1
Cole, D.E.2
Ray, K.3
-
5
-
-
0027337157
-
A homoallelic Gly317 ≫ Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites
-
Greenberg CR, Taylor CLD, Haworth JC, Seagent LE, Philipps S, Triggs-Raine B, Chodirker BN. A homoallelic Gly317 ≫ Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics 1993;17:215-217.
-
(1993)
Genomics
, vol.17
, pp. 215-217
-
-
Greenberg, C.R.1
Taylor, C.L.D.2
Haworth, J.C.3
Seagent, L.E.4
Philipps, S.5
Triggs-Raine, B.6
Chodirker, B.N.7
-
6
-
-
0028024690
-
Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia
-
Orimo H, Hayashi Z, Watanabe A, Hirayama T, Hirayama T, Shimada T. Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum Mol Genet 1994;3:1683-1684.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1683-1684
-
-
Orimo, H.1
Hayashi, Z.2
Watanabe, A.3
Hirayama, T.4
Hirayama, T.5
Shimada, T.6
-
7
-
-
0027571040
-
Clinical and laboratory studies of severe periodontal disease in an adolescent associated with hypophosphatasia
-
Watanabe H, Umeda M, Seki T, Ishikawa I. Clinical and laboratory studies of severe periodontal disease in an adolescent associated with hypophosphatasia. J Periodontol 1993;64:174-180.
-
(1993)
J Periodontol
, vol.64
, pp. 174-180
-
-
Watanabe, H.1
Umeda, M.2
Seki, T.3
Ishikawa, I.4
-
8
-
-
0025367098
-
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, Kajii T. 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 1990;168:993-1000.
-
(1990)
Biochem Biophys Res Commun
, vol.168
, pp. 993-1000
-
-
Matsuura, S.1
Kishi, F.2
Kajii, T.3
-
9
-
-
0029181748
-
Identification of bone-type alkaline phosphatase mRNA from human periodontal ligament cells
-
Goseki M, Oida S, Takeda K, et al. Identification of bone-type alkaline phosphatase mRNA from human periodontal ligament cells. J Dent Res 1995;74:319-322.
-
(1995)
J Dent Res
, vol.74
, pp. 319-322
-
-
Goseki, M.1
Oida, S.2
Takeda, K.3
-
10
-
-
0023696449
-
Structure of the human liver/bone/kidney alkaline phosphatase gene
-
Weiss MJ, Ray K, Henthorn PS, Lamb B, Kadesch T, Harris H. Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem 1988;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
-
11
-
-
0017681196
-
DNA sequencing with chain termination inhibitors
-
USA
-
Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain termination inhibitors. Proc Natl Acad Sci (USA) 1977;74:5463-5467.
-
(1977)
Proc Natl Acad Sci
, vol.74
, pp. 5463-5467
-
-
Sanger, F.1
Nicklen, S.2
Coulson, A.R.3
-
13
-
-
0029115393
-
Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6
-
Waymire KG, Mahuren JD, Jaje M, Guilarte TR, Coburn SP, MacGregor GR. Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nature Genetics 1995:11:45-51.
-
(1995)
Nature Genetics
, vol.11
, pp. 45-51
-
-
Waymire, K.G.1
Mahuren, J.D.2
Jaje, M.3
Guilarte, T.R.4
Coburn, S.P.5
MacGregor, G.R.6
|