Literature DB >> 12958143

A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA.

Hussam Al-Kateb, Ekkehard K F Bautz, Friedrich C Luft, Sylvia Bähring.   

Abstract

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Year:  2003        PMID： 12958143     DOI： 10.1161/01.RES.0000089508.53350.70

Source DB:  PubMed          Journal:  Circ Res        ISSN： 0009-7330            Impact factor:   17.367


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  2 in total

1.  A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.

Authors:  Samuel Canizales-Quinteros; Carlos A Aguilar-Salinas; Adriana Huertas-Vázquez; María L Ordóñez-Sánchez; Maribel Rodríguez-Torres; José L Venturas-Gallegos; Laura Riba; Salvador Ramírez-Jimenez; Rocío Salas-Montiel; Giovani Medina-Palacios; Ludivina Robles-Osorio; Angel Miliar-García; Luis Rosales-León; Blanca H Ruiz-Ordaz; Alejandro Zentella-Dehesa; Adrian Ferré-D'Amare; Francisco J Gómez-Pérez; Ma Teresa Tusié-Luna
Journal:  Hum Genet       Date:  2004-11-17       Impact factor: 4.132

Review 2.  Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Authors:  Sebastiano Calandra; Patrizia Tarugi; Helen E Speedy; Andrew F Dean; Stefano Bertolini; Carol C Shoulders
Journal:  J Lipid Res       Date:  2011-08-23       Impact factor: 5.922
  2 in total

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