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Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
Ibarra-González I, Fernández-Lainez C, Alcántara-Ortigoza MA, González-Del Angel A, Fernández-Henández L, Guillén-López S, Belmont-Martínez L, López-Mejía L, Varela-Fascinetto G, Vela-Amieva M. Ibarra-González I, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e937. doi: 10.1002/mgg3.937. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31568711 Free PMC article.
Diagnosis of inborn errors of metabolism.
Velázquez A, Vela-Amieva M, Cicerón-Arellano I, Ibarra-González I, Pérez-Andrade ME, Olivares-Sandoval Z, Jiménez-Sánchez G. Velázquez A, et al. Arch Med Res. 2000 Mar-Apr;31(2):145-50. doi: 10.1016/s0188-4409(00)00053-9. Arch Med Res. 2000. PMID: 10880718 Review.
Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation.
Alcántara-Ortigoza MA, González-del Angel A, Martínez-Cruz V, Vela-Amieva M, Sánchez-Pérez C, Moreno-Rojas R, Estandía-Ortega B, Hernández-Martínez N. Alcántara-Ortigoza MA, et al. Clin Endocrinol (Oxf). 2012 Jan;76(1):148-50. doi: 10.1111/j.1365-2265.2011.04153.x. Clin Endocrinol (Oxf). 2012. PMID: 21689132 No abstract available.
66 results