SCOPUS 정보 검색 플랫폼

Volumn 36, Issue 12, 1999, Pages 922-923

Mutational analysis of the HGO gene in Finnish alkaptonuria patients

(9) De Bernabé, Daniel Beltrán Valero a Peterson, Pärt b Luopajärvi, Kristiina c Matintalo, Pirjo d Alho, Antti e Konttinen, Yrjö f Krohn, Kai b De Córdoba, Santiago Rodríguez a Ranki, Annamari a,c,f

a Cirugía Oncológica Unidad de Patología Mamaria (Spain)

b UNIVERSITY OF TAMPERE (Finland)

c TAMPERE UNIVERSITY HOSPITAL (Finland)

d Turku Health Centre (Finland)

e Orthon Hospital (Finland)

f HELSINKI UNIVERSITY CENTRAL HOSPITAL (Finland)

Author keywords

Alkaptonuria; Finland; Homogentisate 1,2 dioxygenase

Indexed keywords

HOMOGENTISATE 1,2 DIOXYGENASE; OXYGENASE; UNCLASSIFIED DRUG;

ALKAPTONURIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FINLAND; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; INBORN ERROR OF METABOLISM; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ALKAPTONURIA; DIOXYGENASES; DNA MUTATIONAL ANALYSIS; FINLAND; HOMOGENTISATE 1,2-DIOXYGENASE; HUMANS; MUTATION; OXYGENASES; POLYMORPHISM, GENETIC;

EID: 1642602281 PISSN: 00222593 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (23)

References (8)

1
- 50749093820
- The incidence of alkaptonuria: A study in clinical individuality
- Garrod AE. The incidence of alkaptonuria: a study in clinical individuality. Lancet 1902;ii:1616-20.
- (1902) Lancet , vol.2 , pp. 1616-1620
- Garrod, A.E.¹

2
- 0000465301
- The nature of the defect in tyrosine metabolism in alkaptonuria
- La Du BN, Zannoni VG, Laster L, Seegmiller JE. The nature of the defect in tyrosine metabolism in alkaptonuria. J Biol Chem 1958;230:251-60.
- (1958) J Biol Chem , vol.230 , pp. 251-260
- La Du, B.N.¹ Zannoni, V.G.² Laster, L.³ Seegmiller, J.E.⁴

3
- 0029740946
- The molecular basis of alkaptonuria
- Fernandez-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, et al. The molecular basis of alkaptonuria. Nat Genet 1996;14:19-24.
- (1996) Nat Genet , vol.14 , pp. 19-24
- Fernandez-Cañón, J.M.¹ Granadino, B.² Beltrán-Valero de Bernabé, D.³

4
- 0031571117
- The human homogentisate 1,2-dioxygenase (HGO) gene
- Granadino B, Beltran-Valero de Bernabe D, Fernandez-Canon JM, Penalva MA, Rodriguez de Cordoba S. The human homogentisate 1,2-dioxygenase (HGO) gene. Genomics 1997;43:115-22.
- (1997) Genomics , vol.43 , pp. 115-122
- Granadino, B.¹ Beltran-Valero de Bernabe, D.² Fernandez-Canon, J.M.³ Penalva, M.A.⁴ Rodriguez de Cordoba, S.⁵

5
- 0030935941
- Molecular defects in alkaptonuria
- Gehrig A, Schmidt SR, Müller CR, Srsen S, Srsnova K, Kress W. Molecular defects in alkaptonuria. Cytogenet Cell Genet 1997;76:14-16.
- (1997) Cytogenet Cell Genet , vol.76 , pp. 14-16
- Gehrig, A.¹ Schmidt, S.R.² Müller, C.R.³ Srsen, S.⁴ Srsnova, K.⁵ Kress, W.⁶

6
- 0032019746
- A novel point mutation associated with alkaptonuria
- Higashino K, Liu W, Ohkawa T, et al. A novel point mutation associated with alkaptonuria. Clin Genet 1998;53:228-9.
- (1998) Clin Genet , vol.53 , pp. 228-229
- Higashino, K.¹ Liu, W.² Ohkawa, T.³

7
- 0346928331
- Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkaptonuria patients
- Beltrán-Valero de Bernabé D, Granadino B, Chiarelli I, et al. Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkaptonuria patients, Am J Hum Genet 1998;62:776-84.
- (1998) Am J Hum Genet , vol.62 , pp. 776-784
- Beltrán-Valero de Bernabé, D.¹ Granadino, B.² Chiarelli, I.³

8
- 0031409125
- Molecular background of the Finnish disease heritage
- Peltonen L. Molecular background of the Finnish disease heritage. Ann Med 1997;29:553-6.
- (1997) Ann Med , vol.29 , pp. 553-556
- Peltonen, L.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.