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Journal Abstract Search

409 related items for PubMed ID: 9156316

  • 1. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
    Dawson PA, Cox AJ, Emmerson BT, Dudman NP, Kraus JP, Gordon RB.
    Eur J Hum Genet; 1997; 5(1):15-21. PubMed ID: 9156316
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  • 8. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
    Maclean KN, Gaustadnes M, Oliveriusová J, Janosík M, Kraus E, Kozich V, Kery V, Skovby F, Rüdiger N, Ingerslev J, Stabler SP, Allen RH, Kraus JP.
    Hum Mutat; 2002 Jun; 19(6):641-55. PubMed ID: 12007221
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  • 9. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
    Karaca M, Hismi B, Ozgul RK, Karaca S, Yilmaz DY, Coskun T, Sivri HS, Tokatli A, Dursun A.
    Gene; 2014 Jan 25; 534(2):197-203. PubMed ID: 24211323
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  • 10. Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period.
    Chen S, Ito M, Saijo T, Naito E, Kuroda Y.
    J Med Invest; 1999 Aug 25; 46(3-4):186-91. PubMed ID: 10687314
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  • 11. Correction of disease-causing CBS mutations in yeast.
    Shan X, Kruger WD.
    Nat Genet; 1998 May 25; 19(1):91-3. PubMed ID: 9590298
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  • 12. Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.
    De Lucca M, Casique L.
    Mol Genet Metab; 2004 Mar 25; 81(3):209-15. PubMed ID: 14972327
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  • 13. A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.
    El-Said MF, Badii R, Bessisso MS, Shahbek N, El-Ali MG, El-Marikhie M, El-Zyoid M, Salem MS, Bener A, Hoffmann GF, Zschocke J.
    Hum Mutat; 2006 Jul 25; 27(7):719. PubMed ID: 16786517
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  • 14. High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
    Bermúdez M, Frank N, Bernal J, Urreizti R, Briceño I, Merinero B, Perez-Cerdá C, Ugarte M, Grinberg D, Balcells S, Kraus JP.
    Hum Mutat; 2006 Mar 25; 27(3):296. PubMed ID: 16470595
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  • 15. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
    de Franchis R, Kozich V, McInnes RR, Kraus JP.
    Hum Mol Genet; 1994 Jul 25; 3(7):1103-8. PubMed ID: 7981678
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  • 16. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
    Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE.
    Hum Mol Genet; 1993 Nov 25; 2(11):1857-60. PubMed ID: 7506602
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  • 17. Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.
    Silao CL, Fabella TD, Rama KI, Estrada SC.
    Pediatr Int; 2015 Oct 25; 57(5):884-7. PubMed ID: 25939784
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  • 18. Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
    Dawson PA, Cochran DA, Emmerson BT, Kraus JP, Dudman NP, Gordon RB.
    Aust N Z J Med; 1996 Apr 25; 26(2):180-5. PubMed ID: 8744616
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  • 19. Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
    Urreizti R, Balcells S, Rodés M, Vilarinho L, Baldellou A, Couce ML, Muñoz C, Campistol J, Pintó X, Vilaseca MA, Grinberg D.
    Hum Mutat; 2003 Jul 25; 22(1):103. PubMed ID: 12815602
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  • 20. Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
    Marble M, Geraghty MT, de Franchis R, Kraus JP, Valle D.
    Hum Mol Genet; 1994 Oct 25; 3(10):1883-6. PubMed ID: 7849717
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