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• Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.

  Coudé M, Aupetit J, Zabot MT, Kamoun P, Chadefaux-Vekemans B. Coudé M, et al. J Inherit Metab Dis. 1998 Dec;21(8):823-8. doi: 10.1023/a:1005466601461. J Inherit Metab Dis. 1998. PMID: 9870207
• Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.

  Kozich V, Janosík M, Sokolová J, Oliveriusová J, Orendác M, Kraus JP, Elleder D. Kozich V, et al. J Inherit Metab Dis. 1997 Jul;20(3):363-6. doi: 10.1023/a:1005325911665. J Inherit Metab Dis. 1997. PMID: 9266356 Clinical Trial. No abstract available.
• High prevalence of a mutation in the cystathionine beta-synthase gene.

  Tsai MY, Bignell M, Schwichtenberg K, Hanson NQ. Tsai MY, et al. Am J Hum Genet. 1996 Dec;59(6):1262-7. Am J Hum Genet. 1996. PMID: 8940271 Free PMC article.
• The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

  Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. Urreizti R, et al. J Hum Genet. 2006;51(4):305-313. doi: 10.1007/s10038-006-0362-0. Epub 2006 Feb 15. J Hum Genet. 2006. PMID: 16479318
• A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.

  Zhang X, Ma D, Zou W, Ding Y, Zhu C, Min H, Zhang B, Wang W, Chen B, Ye M, Cai M, Pan Y, Cao L, Wan Y, Jin Y, Gao Q, Yi L. Zhang X, et al. Respir Res. 2016 May 27;17(1):64. doi: 10.1186/s12931-016-0377-9. Respir Res. 2016. PMID: 27229674 Free PMC article.