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PubMed (OMIM) for id: 400313

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Page 1
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.
Canizales-Quinteros S, Aguilar-Salinas CA, Huertas-Vázquez A, Ordóñez-Sánchez ML, Rodríguez-Torres M, Venturas-Gallegos JL, Riba L, Ramírez-Jimenez S, Salas-Montiel R, Medina-Palacios G, Robles-Osorio L, Miliar-García A, Rosales-León L, Ruiz-Ordaz BH, Zentella-Dehesa A, Ferré-D'Amare A, Gómez-Pérez FJ, Tusié-Luna MT. Canizales-Quinteros S, et al. Hum Genet. 2005 Jan;116(1-2):114-20. doi: 10.1007/s00439-004-1192-9. Epub 2004 Nov 17. Hum Genet. 2005. PMID: 15599766
Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia.
Schmidt HH, Stuhrmann M, Shamburek R, Schewe CK, Ebhardt M, Zech LA, Büttner C, Wendt M, Beisiegel U, Brewer HB Jr, Manns MP. Schmidt HH, et al. J Clin Endocrinol Metab. 1998 Jun;83(6):2167-74. doi: 10.1210/jcem.83.6.4840. J Clin Endocrinol Metab. 1998. PMID: 9626156
12 results