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Volumn 51, Issue 4, 2006, Pages 305-313

Erratum: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America (Journal of Human Genetics 51, (305-313) DOI: 10.1007/s10038-006-0362-0);The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

(19)  Urreizti, Roser a   Asteggiano, Carla a,b   Bermudez, Marta c   Córdoba, Alfonso d   Szlago, Mariana e   Grosso, Carola b   De Kremer, Raquel Dodelson b   Vilarinho, Laura f   D'Almeida, Vania g   Martínez Pardo, Mercedes h   Peña Quintana, Luís i   Dalmau, Jaime j   Bernal, Jaime c   Briceño, Ignacio c   Couce, María Luz k   Rodés, Marga l   Vilaseca, Maria Antonia m   Balcells, Susana a   Grinberg, Daniel a  


Author keywords

CBS; Homocystinuria; Latin America; Portugal; Spain; T191M mutation

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

EID: 33646440610     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0103-4     Document Type: Erratum
Times cited : (24)

References (32)
  • 2
    • 0000343368 scopus 로고
    • Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland
    • Carson NAJ, Neill DW (1962) Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child 37:505-513
    • (1962) Arch Dis Child , vol.37 , pp. 505-513
    • Carson, N.A.J.1    Neill, D.W.2
  • 3
    • 0034859418 scopus 로고    scopus 로고
    • Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: Three novel mutations
    • Castro R, Heil SG, Rivera I, Jakobs C, de Almeida IT, Blom HJ (2001) Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations. Clin Genet 60:161-163
    • (2001) Clin Genet , vol.60 , pp. 161-163
    • Castro, R.1    Heil, S.G.2    Rivera, I.3    Jakobs, C.4    De Almeida, I.T.5    Blom, H.J.6
  • 5
    • 1242338015 scopus 로고    scopus 로고
    • Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: Identification of one novel mutation in exon 6
    • De Lucca M, Casique L (2004) Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6. Mol Genet Metab 81:209-215
    • (2004) Mol Genet Metab , vol.81 , pp. 209-215
    • De Lucca, M.1    Casique, L.2
  • 6
    • 0000924012 scopus 로고
    • Homocystinuria due to cystathionine synthetase deficiency: The mode of inheritance
    • Finkelstein JD, Mudd SH, Irreverre F, Laster L (1964) Homocystinuria due to cystathionine synthetase deficiency: the mode of inheritance. Science 146:785-7
    • (1964) Science , vol.146 , pp. 785-787
    • Finkelstein, J.D.1    Mudd, S.H.2    Irreverre, F.3    Laster, L.4
  • 7
    • 0028232177 scopus 로고
    • Identical genotypes in siblings with different homocystinuric phenotypes: Identification of three mutations in cystationine B-synthase using an improved bacterial expression system
    • Franchis R de, Kozich V, Mclinnes RR, Kraus JP (1994) Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystationine B-synthase using an improved bacterial expression system. Hum Mol Genet 3:1103-1108
    • (1994) Hum Mol Genet , vol.3 , pp. 1103-1108
    • De Franchis, R.1    Kozich, V.2    Mclinnes, R.R.3    Kraus, J.P.4
  • 8
    • 0033007594 scopus 로고    scopus 로고
    • Four novel mutations in the cystathionine beta-synthase gene: Effect of a second linked mutation on the severity of the homocystinuric phenotype
    • Franchis R de, Kraus E, Kozich V, Sebastio G, Kraus JP (1999) Four novel mutations in the cystathionine beta-synthase gene: Effect of a second linked mutation on the severity of the homocystinuric phenotype. Hum Mutat 13:453-457
    • (1999) Hum Mutat , vol.13 , pp. 453-457
    • De Franchis, R.1    Kraus, E.2    Kozich, V.3    Sebastio, G.4    Kraus, J.P.5
  • 10
    • 0036327069 scopus 로고    scopus 로고
    • The molecular basis of cystathionine beta-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment
    • Gaustadnes M, Wilcken B, Oliveriusova J, McGill J, Fletcher J, Kraus JP, Wilcken DE (2002) The molecular basis of cystathionine beta-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment. Hum Mutat 20:117-126
    • (2002) Hum Mutat , vol.20 , pp. 117-126
    • Gaustadnes, M.1    Wilcken, B.2    Oliveriusova, J.3    McGill, J.4    Fletcher, J.5    Kraus, J.P.6    Wilcken, D.E.7
  • 11
    • 0032235155 scopus 로고    scopus 로고
    • Mutational analysis of the cystathionine beta-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria
    • Gordon RB, Cox AJ, Dawson PA, Emmerson BT, Kraus JP, Dudman NP (1998) Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Hum Mutat 11:332
    • (1998) Hum Mutat , vol.11 , pp. 332
    • Gordon, R.B.1    Cox, A.J.2    Dawson, P.A.3    Emmerson, B.T.4    Kraus, J.P.5    Dudman, N.P.6
  • 13
    • 0027031675 scopus 로고
    • Screening for mutations by expressing patient cDNA segments in E. coli: Homocystinuria due to cystathionine β-synthase deficiency
    • Kozich V, Kraus JP (1992) Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine β-synthase deficiency. Hum Mutat 1:113-123
    • (1992) Hum Mutat , vol.1 , pp. 113-123
    • Kozich, V.1    Kraus, J.P.2
  • 14
    • 0027195234 scopus 로고
    • Molecular defects in a patient with pyridoxine-responsive homocystinuria
    • Kozich V, de Franchis R, Kraus JP (1993) molecular defects in a patient with pyridoxine-responsive homocystinuria. Hum Mol Genet 2:815-816
    • (1993) Hum Mol Genet , vol.2 , pp. 815-816
    • Kozich, V.1    De Franchis, R.2    Kraus, J.P.3
  • 15
    • 0031778475 scopus 로고    scopus 로고
    • Biochemistry and molecular genetics of cystathionine beta-synthase deficiency
    • Kraus J (1998) Biochemistry and molecular genetics of cystathionine beta-synthase deficiency. Eur J Pediatr 157 [Suppl 2]:S50-S53
    • (1998) Eur J Pediatr , vol.157 , Issue.2 SUPPL.
    • Kraus, J.1
  • 16
    • 0018073909 scopus 로고
    • Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits
    • Kraus J, Packman S, Fowler B, Rosenberg LE (1978) Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits. J Biol Chem 253:6523-6528
    • (1978) J Biol Chem , vol.253 , pp. 6523-6528
    • Kraus, J.1    Packman, S.2    Fowler, B.3    Rosenberg, L.E.4
  • 18
    • 0029045384 scopus 로고
    • A yeast assay for functional detection of mutations in the human Cystathionine β-synthase gene
    • Kruger WD, Cox DR (1995) A yeast assay for functional detection of mutations in the human Cystathionine β-synthase gene. Hum Mol Genet 4:1155-1161
    • (1995) Hum Mol Genet , vol.4 , pp. 1155-1161
    • Kruger, W.D.1    Cox, D.R.2
  • 20
    • 0028170335 scopus 로고
    • Characteritation of a cysathionine β-synthase allele with tree mutations in cis in a patient with B6 nonresponsive homocystinuria
    • Marble M, Geraghty MT, de franchis R, Kraus JP, Valle D (1994) Characteritation of a cysathionine β-synthase allele with tree mutations in cis in a patient with B6 nonresponsive homocystinuria. Hum Mol Genet 3:1883-1886
    • (1994) Hum Mol Genet , vol.3 , pp. 1883-1886
    • Marble, M.1    Geraghty, M.T.2    De Franchis, R.3    Kraus, J.P.4    Valle, D.5
  • 24
    • 0023939665 scopus 로고
    • The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17
    • Munke M, Kraus JP, Ohura T, Francke U (1988) The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am J Hum Genet 42:550-559
    • (1988) Am J Hum Genet , vol.42 , pp. 550-559
    • Munke, M.1    Kraus, J.P.2    Ohura, T.3    Francke, U.4
  • 25
    • 0031801414 scopus 로고    scopus 로고
    • Newborn screening for homocystinuria: Irish and world experience
    • Naughten ER, Yap S, Mayne PD (1998) Newborn screening for homocystinuria: Irish and world experience. Eur J Pediatr 157 [Suppl 2]:S84-S87
    • (1998) Eur J Pediatr , vol.157 , Issue.2 SUPPL.
    • Naughten, E.R.1    Yap, S.2    Mayne, P.D.3
  • 28
    • 0028981761 scopus 로고
    • A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype
    • Shih VE, Fringer JM, Mandell R, Kraus JP, Berry GT, Heidenreich RA, Korson MS, Levy HL, Ramesh V (1995) A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. Am J Hum Genet 57:34-39
    • (1995) Am J Hum Genet , vol.57 , pp. 34-39
    • Shih, V.E.1    Fringer, J.M.2    Mandell, R.3    Kraus, J.P.4    Berry, G.T.5    Heidenreich, R.A.6    Korson, M.S.7    Levy, H.L.8    Ramesh, V.9
  • 29
    • 0029072356 scopus 로고
    • Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: Report of a new mutation in exon 8 and a deletion in intron 11
    • Sperandeo MP, Panico M, Pepe A, Candito M, de Franchis R, Kraus JP, Andria G, Sebastio G (1995) Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11. J Inherit Metab Dis 18:211-214
    • (1995) J Inherit Metab Dis , vol.18 , pp. 211-214
    • Sperandeo, M.P.1    Panico, M.2    Pepe, A.3    Candito, M.4    De Franchis, R.5    Kraus, J.P.6    Andria, G.7    Sebastio, G.8
  • 30
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989
    • (2001) Am J Hum Genet , vol.68 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3


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