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

doi:10.1007/s00439-004-1192-9

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Article

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

Human genetics - 1 Jan 2005

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

Abstract excerpt

Autosomal recessive hypercholesterolemia (ARH) is characterized by elevated LDL serum levels, xanthomatosis, and premature coronary artery disease. Three loci have been described for this condition (1p35, 15q25-q26 and 13q). Recently, the responsible gene at the 1p35 locus, encoding an LDL receptor adaptor protein (ARH) has been identified. We studied a Mexican ARH family with two affected siblings. Sequence...

Topics

Adaptor Proteins, Signal Transducing
Adult
Amino Acid Sequence
Consanguinity
Female
Genes, Recessive
Humans
Hypercholesterolemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mexico

Molecular Sequence Data

Mutation

Pedigree

Protein Structure, Tertiary

RNA Splice Sites

Xanthomatosis

Source

Open in PubMed

Identifiers

PMID: 15599766
DOI: 10.1007/s00439-004-1192-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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