A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia-Reference-Cited by-同舟云学术

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

Published:2004-11-17 Issue:1-2 Volume:116 Page:114-120
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Canizales-Quinteros Samuel,Aguilar-Salinas Carlos A.,Huertas-Vázquez Adriana,Ordóñez-Sánchez María L.,Rodríguez-Torres Maribel,Venturas-Gallegos José L.,Riba Laura,Ramírez-Jimenez Salvador,Salas-Montiel Rocío,Medina-Palacios Giovani,Robles-Osorio Ludivina,Miliar-García Angel,Rosales-León Luis,Ruiz-Ordaz Blanca H.,Zentella-Dehesa Alejandro,Ferré-D’Amare Adrian,Gómez-Pérez Francisco J.,Tusié-Luna Ma. Teresa.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-004-1192-9.pdf

Reference34 articles.

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4. Al-Kateb H, Bautz EK, Luft FC, Bahring S (2003) A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA. Circ Res 93(5):e49–e50

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