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Molecular Genetics and Metabolism

Volumn 85, Issue 1, 2005, Pages 78-80

Normal HPRT coding region in a male with gout due to HPRT deficiency

(4) Dawson, Paul A a Gordon, Ross B a Keough, Dianne T a Emmerson, Bryan T a

a UNIVERSITY OF QUEENSLAND (Australia)

Author keywords

Allopurinol; Gout; Hypoxanthine guanine phosphoribosyltransferase; Lesch Nyhan syndrome; Urate over production

Indexed keywords

ALLOPURINOL; COMPLEMENTARY DNA; CREATININE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; PURINE; URATE;

ADULT; ARTICLE; BRAIN DEVELOPMENT; CASE REPORT; CREATININE CLEARANCE; DIET; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; GENE CONTROL; GENE DELETION; GENETIC CODE; GENETIC DISORDER; GOUT; HUMAN; HUMAN CELL; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; KIDNEY FUNCTION; LESCH NYHAN SYNDROME; LYMPHOBLAST; MALE; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; URIC ACID BLOOD LEVEL; URIC ACID URINE LEVEL; URINARY EXCRETION;

EID: 18044395718 PISSN: 10967192 EISSN: None Source Type: Journal
DOI: 10.1016/j.ymgme.2005.01.005 Document Type: Article

Times cited : (23)

References (10)

1
- 0014096982
- A specific enzyme defect in gout associated with overproduction of uric acid
- W.N. Kelley, F.M. Rosenbloom, J.F. Henderson, and J.E. Seegmiller A specific enzyme defect in gout associated with overproduction of uric acid Proc. Natl. Acad. Sci. USA 57 1967 1735 1739
- (1967) Proc. Natl. Acad. Sci. USA , vol.57 , pp. 1735-1739
- Kelley, W.N.¹ Rosenbloom, F.M.² Henderson, J.F.³ Seegmiller, J.E.⁴

2
- 0001168164
- A familial disorder of uric acid metabolism and central nervous system function
- M. Lesch, and W.L. Nyhan A familial disorder of uric acid metabolism and central nervous system function Am. J. Med. 36 1964 561 570
- (1964) Am. J. Med. , vol.36 , pp. 561-570
- Lesch, M.¹ Nyhan, W.L.²

3
- 0022309612
- HPRT: Gene structure, expression, and mutation
- J.T. Stout, and C.T. Caskey HPRT: Gene structure, expression, and mutation Annu. Rev. Genet. 19 1985 127 148
- (1985) Annu. Rev. Genet. , vol.19 , pp. 127-148
- Stout, J.T.¹ Caskey, C.T.²

4
- 0033799868
- The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases
- H.A. Jinnah, L. De Gregorio, J.C. Harris, W.L. Nyhan, and J.P. O'Neill The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases Mutat. Res. 463 2000 309 326
- (2000) Mutat. Res. , vol.463 , pp. 309-326
- Jinnah, H.A.¹ De Gregorio, L.² Harris, J.C.³ Nyhan, W.L.⁴ O'Neill, J.P.⁵

5
- 0026591855
- A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency
- D.G. Sculley, P.A. Dawson, B.T. Emmerson, and R.B. Gordon A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency Hum. Genet. 90 1992 195 207
- (1992) Hum. Genet. , vol.90 , pp. 195-207
- Sculley, D.G.¹ Dawson, P.A.² Emmerson, B.T.³ Gordon, R.B.⁴

6
- 0025837061
- The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: Two Lesch-Nyhan patients with reduced amounts of mRNA
- R.B. Gordon, P.A. Dawson, D.G. Sculley, B.T. Emmerson, C.T. Caskey, and R.A. Gibbs The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: Two Lesch-Nyhan patients with reduced amounts of mRNA Gene 108 1991 299 304
- (1991) Gene , vol.108 , pp. 299-304
- Gordon, R.B.¹ Dawson, P.A.² Sculley, D.G.³ Emmerson, B.T.⁴ Caskey, C.T.⁵ Gibbs, R.A.⁶

7
- 0029950881
- Regulation of the hypoxanthine phosphoribosyltransferase gene: In vitro and in vivo approaches
- S. Jiralerspong, and P.I. Patel Regulation of the hypoxanthine phosphoribosyltransferase gene: In vitro and in vivo approaches Proc. Soc. Exp. Biol. Med. 212 1996 116 127
- (1996) Proc. Soc. Exp. Biol. Med. , vol.212 , pp. 116-127
- Jiralerspong, S.¹ Patel, P.I.²

8
- 0029932976
- Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase
- P.A. Dawson, D.A. Cochran, B.T. Emmerson, J.P. Kraus, N.P. Dudman, and R.B. Gordon Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase Aust. N.Z.J. Med. 26 1996 180 185
- (1996) Aust. N.Z.J. Med. , vol.26 , pp. 180-185
- Dawson, P.A.¹ Cochran, D.A.² Emmerson, B.T.³ Kraus, J.P.⁴ Dudman, N.P.⁵ Gordon, R.B.⁶

9
- 0023157076
- Human hypoxanthine-guanine phosphoribosyltransferase. Development of a spectrophotometric assay and its use in detection and characterization of mutant forms
- D.T. Keough, L.A. McConachie, R.B. Gordon, J. de Jersey, and B.T. Emmerson Human hypoxanthine-guanine phosphoribosyltransferase. Development of a spectrophotometric assay and its use in detection and characterization of mutant forms Clin. Chim. Acta 163 1987 301 308
- (1987) Clin. Chim. Acta , vol.163 , pp. 301-308
- Keough, D.T.¹ McConachie, L.A.² Gordon, R.B.³ De Jersey, J.⁴ Emmerson, B.T.⁵

10
- 0020791872
- A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man
- R.L. Nussbaum, W.E. Crowder, W.L. Nyhan, and C.T. Caskey A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man Proc. Natl. Acad. Sci. USA 80 1983 4035 4039
- (1983) Proc. Natl. Acad. Sci. USA , vol.80 , pp. 4035-4039
- Nussbaum, R.L.¹ Crowder, W.E.² Nyhan, W.L.³ Caskey, C.T.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.